A13S (p.Ala13Ser) variant of AQP5 (Aquaporin-5)
A13S (p.Ala13Ser) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
A13S (p.Ala13Ser) variant details
- p.Ala13Ser
- gnomAD 12-49962054-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- REVEL 0.64
- CADD 22.90
- PolyPhen-2 0.42
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available