R8R (p.Arg8Arg) variant of KCNJ2 (P63252)
R8R (p.Arg8Arg) in KCNJ2 (P63252) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
R8R (p.Arg8Arg) variant details
- p.Arg8Arg
- gnomAD 17-70175063-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.438
- CADD 11.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available