E6G (p.Glu6Gly) variant of NFKBIA (NF-kappa-B inhibitor alpha)
E6G (p.Glu6Gly) in NFKBIA (NF-kappa-B inhibitor alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
E6G (p.Glu6Gly) variant details
- p.Glu6Gly
- Ensembl rs2138834428
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.12
- MetaLR 0.20
- MetaSVM -0.92
- CADD 21.40
- PolyPhen-2 0.00
- SIFT 0.36
- Population evidence available
- Structural context available