A31V (p.Ala31Val) variant of AQP2 (Aquaporin-2)
A31V (p.Ala31Val) in AQP2 (Aquaporin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
A31V (p.Ala31Val) variant details
- p.Ala31Val
- gnomAD 12-49950922-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- REVEL 0.65
- CADD 22.50
- PolyPhen-2 0.26
- SIFT 0.10
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available
- Literature evidence available