G33D (p.Gly33Asp) variant of NFKBIA (NF-kappa-B inhibitor alpha)
G33D (p.Gly33Asp) in NFKBIA (NF-kappa-B inhibitor alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
G33D (p.Gly33Asp) variant details
- p.Gly33Asp
- Ensembl rs2138834215
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- REVEL 0.71
- MetaLR 0.87
- MetaSVM 0.87
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available