R57L (p.Arg57Leu) variant of IKBKB (O14920)
R57L (p.Arg57Leu) in IKBKB (O14920) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
R57L (p.Arg57Leu) variant details
- p.Arg57Leu
- gnomAD 8-42288698-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- REVEL 0.74
- MetaLR 0.43
- MetaSVM -0.12
- CADD 29.60
- PolyPhen-2 0.94
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available