A8S (p.Ala8Ser) variant of AQP2 (Aquaporin-2)
A8S (p.Ala8Ser) in AQP2 (Aquaporin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
A8S (p.Ala8Ser) variant details
- p.Ala8Ser
- gnomAD 12-49950852-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.27
- CADD 21.30
- PolyPhen-2 0.31
- SIFT 0.28
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available