E14G (p.Glu14Gly) variant of NFKBIA (NF-kappa-B inhibitor alpha)
E14G (p.Glu14Gly) in NFKBIA (NF-kappa-B inhibitor alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
E14G (p.Glu14Gly) variant details
- p.Glu14Gly
- Ensembl rs2138834380
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.40
- MetaLR 0.37
- MetaSVM -0.35
- CADD 23.70
- PolyPhen-2 0.08
- SIFT 0.12
- Population evidence available
- Structural context available