R44R (p.Arg44Arg) variant of KCNJ2 (P63252)
R44R (p.Arg44Arg) in KCNJ2 (P63252) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
R44R (p.Arg44Arg) variant details
- p.Arg44Arg
- rs551369705
- gnomAD 17-70175171-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.316
- CADD 9.97
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available
- Literature evidence available