A112D (p.Ala112Asp) variant of AQP3 (Aquaporin-3)
A112D (p.Ala112Asp) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
A112D (p.Ala112Asp) variant details
- p.Ala112Asp
- gnomAD rs1339268891
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- REVEL 0.49
- CADD 26.60
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available