A42S (p.Ala42Ser) variant of IKBKB (O14920)
A42S (p.Ala42Ser) in IKBKB (O14920) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
A42S (p.Ala42Ser) variant details
- p.Ala42Ser
- gnomAD 8-42288652-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- REVEL 0.79
- MetaLR 0.71
- MetaSVM 0.69
- CADD 27.00
- PolyPhen-2 0.97
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available