R50R (p.Arg50Arg) variant of KCNJ11 (Q14654)
R50R (p.Arg50Arg) in KCNJ11 (Q14654) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
R50R (p.Arg50Arg) variant details
- p.Arg50Arg
- rs1221397837
- gnomAD 11-17387942-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.121
- CADD 5.71
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available