F24L (p.Phe24Leu) variant of AQP5 (Aquaporin-5)
F24L (p.Phe24Leu) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
F24L (p.Phe24Leu) variant details
- p.Phe24Leu
- gnomAD 12-49962089-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.51
- CADD 18.60
- PolyPhen-2 0.29
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available