L51V (p.Leu51Val) variant of AQP5 (Aquaporin-5)
L51V (p.Leu51Val) 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 and structural context.
L51V (p.Leu51Val) variant details
- p.Leu51Val
- TOPMed rs1157410332
- gnomAD rs1157410332
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.54
- CADD 18.20
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available