A9V (p.Ala9Val) variant of AQP5 (Aquaporin-5)
A9V (p.Ala9Val) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
A9V (p.Ala9Val) variant details
- p.Ala9Val
- gnomAD 12-49962043-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.28
- CADD 18.10
- PolyPhen-2 0.02
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available