K2R (p.Lys2Arg) variant of AQP5 (Aquaporin-5)
K2R (p.Lys2Arg) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
K2R (p.Lys2Arg) variant details
- p.Lys2Arg
- Ensembl rs1947428608
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.26
- CADD 17.80
- PolyPhen-2 0.00
- SIFT 0.46
- Population evidence available
- Structural context available