A20V (p.Ala20Val) variant of AQP5 (Aquaporin-5)
A20V (p.Ala20Val) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
A20V (p.Ala20Val) variant details
- p.Ala20Val
- gnomAD 12-49962076-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- REVEL 0.75
- CADD 23.80
- PolyPhen-2 0.52
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available