F56Y (p.Phe56Tyr) variant of AQP3 (Aquaporin-3)
F56Y (p.Phe56Tyr) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
F56Y (p.Phe56Tyr) variant details
- p.Phe56Tyr
- ESP rs374961919
- ExAC rs374961919
- TOPMed rs374961919
- gnomAD rs374961919
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- REVEL 0.55
- CADD 23.80
- PolyPhen-2 0.70
- SIFT 0.29
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available