E49G (p.Glu49Gly) variant of IKBKB (O14920)
E49G (p.Glu49Gly) in IKBKB (O14920) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
E49G (p.Glu49Gly) variant details
- p.Glu49Gly
- ExAC rs749197733
- gnomAD rs749197733
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- REVEL 0.53
- CADD 32.00
- PolyPhen-2 0.79
- SIFT 0.02
- Population evidence available
- Structural context available