Q50* (p.Gln50Ter) variant of NFKBIA (NF-kappa-B inhibitor alpha)
Q50* (p.Gln50Ter) in NFKBIA (NF-kappa-B inhibitor alpha) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
Q50* (p.Gln50Ter) variant details
- p.Gln50Ter
- NCI-TCGA Cosmic COSV9939
- cosmic curated COSV99395
- Ensembl rs1566591053
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.556
- CADD 35.00
- UniProt: Variant assessed as somatic; high impact.
- Population evidence available
- Structural context available