R5L (p.Arg5Leu) variant of KCNJ2 (P63252)
R5L (p.Arg5Leu) in KCNJ2 (P63252) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
R5L (p.Arg5Leu) variant details
- p.Arg5Leu
- cosmic curated COSV54663
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- REVEL 0.48
- MetaLR 0.36
- MetaSVM -0.52
- CADD 29.10
- PolyPhen-2 0.95
- SIFT 0.01
- Population evidence available
- Structural context available