R47S (p.Arg47Ser) variant of IKBKB (O14920)
R47S (p.Arg47Ser) in IKBKB (O14920) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
R47S (p.Arg47Ser) variant details
- p.Arg47Ser
- rs1490536162
- gnomAD 8-42272230-A-AGC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.134
- CADD 7.49
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available