W11* (p.Trp11Ter) variant of NFKBIA (NF-kappa-B inhibitor alpha)
W11* (p.Trp11Ter) 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 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
W11* (p.Trp11Ter) variant details
- p.Trp11Ter
- rs1555342918
- ClinGen CA389455462
- ClinVar RCV000519045
- ClinVar RCV006463279
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.756
- CADD 38.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Heterozygous N-terminal deletion of IkappaBalpha results in functional nuclear factor kappaB haploinsufficiency… (PMID 17931563)