A107V (p.Ala107Val) variant of AQP3 (Aquaporin-3)
A107V (p.Ala107Val) in AQP3 (Aquaporin-3) 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 and structural context.
A107V (p.Ala107Val) variant details
- p.Ala107Val
- gnomAD rs1266211169
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.23
- CADD 22.00
- PolyPhen-2 0.76
- SIFT 1.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available