L15V (p.Leu15Val) variant of AQP3 (Aquaporin-3)
L15V (p.Leu15Val) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
L15V (p.Leu15Val) variant details
- p.Leu15Val
- Ensembl rs376385241
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.30
- CADD 22.50
- PolyPhen-2 0.04
- SIFT 0.06
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available