G38R (p.Gly38Arg) variant of IKBKB (O14920)
G38R (p.Gly38Arg) in IKBKB (O14920) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
G38R (p.Gly38Arg) variant details
- p.Gly38Arg
- ExAC rs780080409
- gnomAD rs780080409
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- REVEL 0.45
- CADD 25.10
- PolyPhen-2 0.98
- SIFT 0.06
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available