A126S (p.Ala126Ser) variant of AQP3 (Aquaporin-3)
A126S (p.Ala126Ser) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
A126S (p.Ala126Ser) variant details
- p.Ala126Ser
- gnomAD 9-33442968-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.22
- MetaLR 0.10
- MetaSVM -1.11
- CADD 25.20
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available