E56Q (p.Glu56Gln) variant of IKBKB (O14920)
E56Q (p.Glu56Gln) in IKBKB (O14920) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
E56Q (p.Glu56Gln) variant details
- p.Glu56Gln
- gnomAD rs1454239284
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.18
- CADD 22.70
- PolyPhen-2 0.12
- SIFT 0.12
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available