L11F (p.Leu11Phe) variant of AQP5 (Aquaporin-5)
L11F (p.Leu11Phe) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
L11F (p.Leu11Phe) variant details
- p.Leu11Phe
- gnomAD 12-49962048-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.23
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.70
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available