R53R (p.Arg53Arg) variant of IKBKB (O14920)
R53R (p.Arg53Arg) in IKBKB (O14920) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
R53R (p.Arg53Arg) variant details
- p.Arg53Arg
- gnomAD 8-42288685-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.37
- CADD 9.71
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available