A59V (p.Ala59Val) variant of AQP5 (Aquaporin-5)
A59V (p.Ala59Val) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
A59V (p.Ala59Val) variant details
- p.Ala59Val
- gnomAD rs1226491229
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.26
- CADD 13.70
- PolyPhen-2 0.09
- SIFT 0.31
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available