R32K (p.Arg32Lys) variant of KCNJ11 (Q14654)
R32K (p.Arg32Lys) in KCNJ11 (Q14654) 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, published literature, and structural context.
R32K (p.Arg32Lys) variant details
- p.Arg32Lys
- gnomAD 11-17387997-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.29
- CADD 14.10
- PolyPhen-2 0.01
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available