E14* (p.Glu14Ter) variant of NFKBIA (NF-kappa-B inhibitor alpha)
E14* (p.Glu14Ter) in NFKBIA (NF-kappa-B inhibitor alpha) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
E14* (p.Glu14Ter) variant details
- p.Glu14Ter
- rs121913665
- ClinGen CA123696
- ClinVar RCV000015042
- Ensembl rs121913665
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.858
- CADD 38.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: A novel mutation in NFKBIA/IKBA results in a degradation-resistant N-truncated protein and is associated with… (PMID 18412279)