L122V (p.Leu122Val) variant of AQP3 (Aquaporin-3)
L122V (p.Leu122Val) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
L122V (p.Leu122Val) variant details
- p.Leu122Val
- gnomAD rs1327317379
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.38
- CADD 22.80
- PolyPhen-2 0.67
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available