L22F (p.Leu22Phe) variant of AQP3 (Aquaporin-3)
L22F (p.Leu22Phe) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
L22F (p.Leu22Phe) variant details
- p.Leu22Phe
- ExAC rs768201326
- gnomAD rs768201326
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.39
- CADD 23.40
- PolyPhen-2 0.63
- SIFT 0.32
- Population evidence available
- Structural context available