R52R (p.Arg52Arg) variant of KCNJ5 (P48544)
R52R (p.Arg52Arg) in KCNJ5 (P48544) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
R52R (p.Arg52Arg) variant details
- p.Arg52Arg
- gnomAD 11-128911429-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.317
- CADD 9.74
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available