R67M (p.Arg67Met) variant of IKBKB (O14920)
R67M (p.Arg67Met) in IKBKB (O14920) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
R67M (p.Arg67Met) variant details
- p.Arg67Met
- gnomAD 8-42288728-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.38
- MetaLR 0.26
- MetaSVM -0.71
- CADD 33.00
- PolyPhen-2 0.30
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available