P35A (p.Pro35Ala) variant of AQP2 (Aquaporin-2)
P35A (p.Pro35Ala) in AQP2 (Aquaporin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
P35A (p.Pro35Ala) variant details
- p.Pro35Ala
- gnomAD 12-49950933-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.26
- CADD 16.60
- PolyPhen-2 0.01
- SIFT 0.10
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available