L19S (p.Leu19Ser) variant of AQP5 (Aquaporin-5)
L19S (p.Leu19Ser) 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.
L19S (p.Leu19Ser) variant details
- p.Leu19Ser
- ExAC rs762076378
- gnomAD rs762076378
- Missense
- Variant Prioritization Score for Impact Estimate 0.669
- REVEL 0.70
- CADD 25.40
- PolyPhen-2 0.83
- SIFT 0.02
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available