E40G (p.Glu40Gly) variant of NFKBIA (NF-kappa-B inhibitor alpha)
E40G (p.Glu40Gly) in NFKBIA (NF-kappa-B inhibitor alpha) 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.
E40G (p.Glu40Gly) variant details
- p.Glu40Gly
- TOPMed rs2052768256
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.25
- MetaLR 0.65
- MetaSVM 0.33
- CADD 29.70
- PolyPhen-2 0.82
- SIFT 0.07
- Population evidence available
- Structural context available