A131G (p.Ala131Gly) variant of AQP3 (Aquaporin-3)
A131G (p.Ala131Gly) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
A131G (p.Ala131Gly) variant details
- p.Ala131Gly
- ExAC rs770956892
- gnomAD rs770956892
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.04
- AlphaMissense 0.98
- MetaLR 0.04
- MetaSVM -1.13
- CADD 7.73
- PolyPhen-2 0.72
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available