R50R (p.Arg50Arg) variant of KCNJ5 (P48544)
R50R (p.Arg50Arg) in KCNJ5 (P48544) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
R50R (p.Arg50Arg) variant details
- p.Arg50Arg
- rs1236098620
- gnomAD 11-128911423-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.105
- CADD 3.48
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available