A32D (p.Ala32Asp) variant of AQP1 (Aquaporin-1)
A32D (p.Ala32Asp) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
A32D (p.Ala32Asp) variant details
- p.Ala32Asp
- ExAC rs750104687
- TOPMed rs750104687
- gnomAD rs750104687
- Missense
- Variant Prioritization Score for Impact Estimate 0.894
- REVEL 0.94
- MetaLR 0.93
- MetaSVM 1.08
- CADD 28.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available