A42V (p.Ala42Val) variant of IKBKB (O14920)
A42V (p.Ala42Val) in IKBKB (O14920) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
A42V (p.Ala42Val) variant details
- p.Ala42Val
- Ensembl rs1811925135
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- REVEL 0.84
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available