R40R (p.Arg40Arg) variant of KCNJ2 (P63252)
R40R (p.Arg40Arg) in KCNJ2 (P63252) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
R40R (p.Arg40Arg) variant details
- p.Arg40Arg
- rs786205811
- gnomAD 17-70175157-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.538
- CADD 10.10
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available
- Literature evidence available