F15L (p.Phe15Leu) variant of AQP5 (Aquaporin-5)
F15L (p.Phe15Leu) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
F15L (p.Phe15Leu) variant details
- p.Phe15Leu
- ExAC rs745767685
- TOPMed rs745767685
- gnomAD rs745767685
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.29
- CADD 0.63
- PolyPhen-2 0.01
- SIFT 0.27
- Most common in the African/African-American population (allele frequency 0.00014)
- Structural context available