V46A (p.Val46Ala) variant of AQP3 (Aquaporin-3)
V46A (p.Val46Ala) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
V46A (p.Val46Ala) variant details
- p.Val46Ala
- ExAC rs748149295
- TOPMed rs748149295
- gnomAD rs748149295
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.30
- CADD 17.70
- PolyPhen-2 0.13
- SIFT 0.97
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available