A131A (p.Ala131Ala) variant of AQP3 (Aquaporin-3)
A131A (p.Ala131Ala) in AQP3 (Aquaporin-3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
A131A (p.Ala131Ala) variant details
- p.Ala131Ala
- rs760931129
- gnomAD 9-33442951-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.109
- CADD 4.01
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available
- Literature evidence available