R6R (p.Arg6Arg) variant of KCNJ5 (P48544)
R6R (p.Arg6Arg) in KCNJ5 (P48544) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
R6R (p.Arg6Arg) variant details
- p.Arg6Arg
- gnomAD 11-128911291-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.366
- CADD 11.30
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available