A16V (p.Ala16Val) variant of AQP5 (Aquaporin-5)
A16V (p.Ala16Val) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
A16V (p.Ala16Val) variant details
- p.Ala16Val
- ESP rs138665659
- TOPMed rs138665659
- gnomAD rs138665659
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.42
- CADD 22.20
- PolyPhen-2 0.58
- SIFT 0.07
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available