I43V (p.Ile43Val) variant of IKBKB (O14920)
I43V (p.Ile43Val) in IKBKB (O14920) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
I43V (p.Ile43Val) variant details
- p.Ile43Val
- gnomAD 8-42288655-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.08
- MetaLR 0.08
- MetaSVM -1.06
- CADD 19.70
- PolyPhen-2 0.15
- SIFT 0.53
- Population evidence available
- Structural context available
- Literature evidence available