H33R (p.His33Arg) variant of IKBKB (O14920)
H33R (p.His33Arg) in IKBKB (O14920) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
H33R (p.His33Arg) variant details
- p.His33Arg
- gnomAD 8-42272198-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.22
- MetaLR 0.17
- MetaSVM -0.88
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.35
- Population evidence available
- Structural context available
- Literature evidence available