F10L (p.Phe10Leu) variant of AQP5 (Aquaporin-5)
F10L (p.Phe10Leu) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
F10L (p.Phe10Leu) variant details
- p.Phe10Leu
- gnomAD rs1434712483
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- REVEL 0.49
- CADD 22.40
- PolyPhen-2 0.09
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available