<p>This answer is very late but may still help others:
Have a look at the UniProt index of human polymorphisms and disease mutations at <a href="https://www.uniprot.org/docs/humsavar" rel="nofollow noreferrer">https://www.uniprot.org/docs/humsavar</a></p>

<p>Please don't hesitate to contact the UniProt helpdesk if you have any additional questions.</p>

CC BY-SA 4.0
2019-06-11T18:39:58.243Z
Thanks for answering! No answer is ever late here, the objetive of this site to to amass a collection of useful Q&As, so the age of a question is irrelevant as long as it could still be asked by someone else. If, as your answer seems to suggest, you are affiliated with UniProt, it would be helpful if you could mention that since it would add more weight to your answers.
terdon
CC BY-SA 4.0
2019-06-11T15:23:31.580Z
2019-06-11T15:23:31.580Z
Elisabeth.Gasteiger
<p>In Uniprot how do I know which variants are mutations and which are polymorphic?
I am looking at <a href="https://www.uniprot.org/uniprot/P38398#function" rel="nofollow noreferrer">P38398 (BRCA1_HUMAN)</a> specifically.</p>

<p>Many thanks.</p>

CC BY-SA 4.0
2018-11-12T12:50:44.850Z
What do you mean by "mutation"? Are you just talking about how frequent a variant is in a population?
terdon
<uniprot>
In Uniprot how do I know which variants are mutations and which are polymorphic?
# In Uniprot how do I know which variants are mutations and which are polymorphic?

(Asked by: username_0 on 2018-11-11)

In Uniprot how do I know which variants are mutations and which are polymorphic?
I am looking at [P38398 (BRCA1\_HUMAN)](https://www.uniprot.org/uniprot/P38398#function) specifically.

Many thanks.

**Tags:** uniprot
> **Comments:**
> **username_1**: What do you mean by "mutation"? Are you just talking about how frequent a variant is in a population?  

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## 1 answers

### Answer by username_2 on 2019-06-11. Score: 2

This answer is very late but may still help others:
Have a look at the UniProt index of human polymorphisms and disease mutations at <https://www.uniprot.org/docs/humsavar>

Please don't hesitate to contact the UniProt helpdesk if you have any additional questions.

> **Comments:**
> **username_1**: Thanks for answering! No answer is ever late here, the objetive of this site to to amass a collection of useful Q&As, so the age of a question is irrelevant as long as it could still be asked by someone else. If, as your answer seems to suggest, you are affiliated with UniProt, it would be helpful if you could mention that since it would add more weight to your answers.  

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