F26L (p.Phe26Leu) variant of AQP5 (Aquaporin-5)
F26L (p.Phe26Leu) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
F26L (p.Phe26Leu) variant details
- p.Phe26Leu
- gnomAD 12-49962095-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- REVEL 0.58
- CADD 20.40
- PolyPhen-2 0.26
- SIFT 0.20
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available