A15S (p.Ala15Ser) variant of AQP2 (Aquaporin-2)
A15S (p.Ala15Ser) in AQP2 (Aquaporin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
A15S (p.Ala15Ser) variant details
- p.Ala15Ser
- gnomAD 12-49950873-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.45
- CADD 17.20
- PolyPhen-2 0.18
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available