R52L (p.Arg52Leu) variant of KCNJ5 (P48544)
R52L (p.Arg52Leu) in KCNJ5 (P48544) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R52L (p.Arg52Leu) variant details
- p.Arg52Leu
- gnomAD 11-128911428-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.853
- REVEL 0.93
- MetaLR 0.88
- MetaSVM 0.95
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available