L19W (p.Leu19Trp) variant of AQP5 (Aquaporin-5)
L19W (p.Leu19Trp) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
L19W (p.Leu19Trp) variant details
- p.Leu19Trp
- ExAC rs762076378
- gnomAD rs762076378
- Missense
- Variant Prioritization Score for Impact Estimate 0.669
- REVEL 0.70
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available