A48V (p.Ala48Val) variant of AQP5 (Aquaporin-5)
A48V (p.Ala48Val) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
A48V (p.Ala48Val) variant details
- p.Ala48Val
- gnomAD 12-49962160-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- REVEL 0.57
- CADD 23.90
- PolyPhen-2 0.74
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available