Q44* (p.Gln44Ter) variant of NFKBIA (NF-kappa-B inhibitor alpha)
Q44* (p.Gln44Ter) 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 0.85 / 1. The record also includes population frequency data and structural context.
Q44* (p.Gln44Ter) variant details
- p.Gln44Ter
- NCI-TCGA Cosmic COSV5375
- cosmic curated COSV53751
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.855
- CADD 39.00
- UniProt: Variant assessed as somatic; high impact.
- Population evidence available
- Structural context available