Q45L (p.Gln45Leu) variant of IKBKB (O14920)
Q45L (p.Gln45Leu) in IKBKB (O14920) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
Q45L (p.Gln45Leu) variant details
- p.Gln45Leu
- gnomAD 8-42288662-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.19
- MetaLR 0.07
- MetaSVM -1.08
- CADD 22.20
- PolyPhen-2 0.07
- SIFT 0.45
- Population evidence available
- Structural context available
- Literature evidence available