R20H (p.Arg20His) variant of IKBKB (O14920)
R20H (p.Arg20His) in IKBKB (O14920) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
R20H (p.Arg20His) variant details
- p.Arg20His
- ExAC rs749580126
- TOPMed rs749580126
- gnomAD rs749580126
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.20
- CADD 24.80
- PolyPhen-2 0.33
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available