R31G (p.Arg31Gly) variant of IKBKB (O14920)
R31G (p.Arg31Gly) in IKBKB (O14920) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
R31G (p.Arg31Gly) variant details
- p.Arg31Gly
- gnomAD 8-42272191-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.34
- MetaLR 0.15
- MetaSVM -0.84
- CADD 22.80
- PolyPhen-2 0.26
- SIFT 0.21
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available