E51G (p.Glu51Gly) variant of NFKBIA (NF-kappa-B inhibitor alpha)
E51G (p.Glu51Gly) in NFKBIA (NF-kappa-B inhibitor alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
E51G (p.Glu51Gly) variant details
- p.Glu51Gly
- Ensembl rs1043931157
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.03
- MetaLR 0.07
- MetaSVM -1.08
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.30
- Population evidence available
- Structural context available