W11C (p.Trp11Cys) variant of NFKBIA (NF-kappa-B inhibitor alpha)
W11C (p.Trp11Cys) in NFKBIA (NF-kappa-B inhibitor alpha) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. 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.
W11C (p.Trp11Cys) variant details
- p.Trp11Cys
- Ensembl rs1555342918
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.40
- MetaLR 0.34
- MetaSVM -0.36
- CADD 23.20
- PolyPhen-2 0.24
- SIFT 0.17
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available