E39G (p.Glu39Gly) variant of IKBKB (O14920)
E39G (p.Glu39Gly) in IKBKB (O14920) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
E39G (p.Glu39Gly) variant details
- p.Glu39Gly
- ExAC rs768610309
- gnomAD rs768610309
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.52
- CADD 25.50
- PolyPhen-2 0.37
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available