R17C (p.Arg17Cys) variant of NFKBIA (NF-kappa-B inhibitor alpha)
R17C (p.Arg17Cys) in NFKBIA (NF-kappa-B inhibitor alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
R17C (p.Arg17Cys) variant details
- p.Arg17Cys
- Ensembl rs2138834358
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- REVEL 0.51
- MetaLR 0.31
- MetaSVM -0.43
- CADD 24.60
- PolyPhen-2 0.35
- SIFT 0.08
- Population evidence available
- Structural context available