R53C (p.Arg53Cys) variant of NFKBIA (NF-kappa-B inhibitor alpha)
R53C (p.Arg53Cys) in NFKBIA (NF-kappa-B inhibitor alpha) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
R53C (p.Arg53Cys) variant details
- p.Arg53Cys
- Ensembl rs2138834102
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.45
- MetaLR 0.28
- MetaSVM -0.47
- CADD 26.70
- PolyPhen-2 0.99
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available