Q48L (p.Gln48Leu) variant of IKBKB (O14920)
Q48L (p.Gln48Leu) in IKBKB (O14920) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
Q48L (p.Gln48Leu) variant details
- p.Gln48Leu
- gnomAD 8-42288671-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.12
- MetaLR 0.07
- MetaSVM -1.06
- CADD 22.40
- PolyPhen-2 0.10
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available