R30R (p.Arg30Arg) variant of KCNJ5 (P48544)
R30R (p.Arg30Arg) in KCNJ5 (P48544) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
R30R (p.Arg30Arg) variant details
- p.Arg30Arg
- rs201886526
- gnomAD 11-128911363-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0812
- CADD 0.64
- Most common in the 1KG:ITU population (allele frequency 0.0049)
- Structural context available
- Literature evidence available