R53G (p.Arg53Gly) variant of IKBKB (O14920)
R53G (p.Arg53Gly) in IKBKB (O14920) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
R53G (p.Arg53Gly) variant details
- p.Arg53Gly
- gnomAD 8-42288680-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.733
- CADD 22.60
- Population evidence available
- Structural context available
- Literature evidence available