A80V (p.Ala80Val) variant of AQP3 (Aquaporin-3)
A80V (p.Ala80Val) in AQP3 (Aquaporin-3) 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.
A80V (p.Ala80Val) variant details
- p.Ala80Val
- Ensembl rs778212126
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.32
- CADD 26.20
- PolyPhen-2 0.60
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available