R6K (p.Arg6Lys) variant of KCNJ5 (P48544)
R6K (p.Arg6Lys) in KCNJ5 (P48544) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
R6K (p.Arg6Lys) variant details
- p.Arg6Lys
- gnomAD 11-128911290-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.43
- MetaLR 0.71
- MetaSVM -0.59
- CADD 22.40
- PolyPhen-2 0.06
- SIFT 0.19
- Most common in the Non-Finnish European population (allele frequency 9e-06)
- Structural context available
- Literature evidence available