A131D (p.Ala131Asp) variant of AQP3 (Aquaporin-3)
A131D (p.Ala131Asp) 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, published literature, and structural context.
A131D (p.Ala131Asp) variant details
- p.Ala131Asp
- gnomAD 9-33442952-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.04
- AlphaMissense 0.98
- MetaLR 0.04
- MetaSVM -1.13
- CADD 9.95
- PolyPhen-2 0.72
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available