D132Y (p.Asp132Tyr) variant of AQP3 (Aquaporin-3)
D132Y (p.Asp132Tyr) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
D132Y (p.Asp132Tyr) variant details
- p.Asp132Tyr
- 1000Genomes rs2231233
- ESP rs2231233
- ExAC rs2231233
- TOPMed rs2231233
- Missense
- Variant Prioritization Score for Impact Estimate 0.113
- REVEL 0.06
- CADD 14.10
- PolyPhen-2 0.35
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available