W139* (p.Trp139Ter) variant of KRT13 (Keratin, type I cytoskeletal 13)
W139* (p.Trp139Ter) in KRT13 (Keratin, type I cytoskeletal 13) 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 0.87 / 1. The record also includes population frequency data and structural context.
W139* (p.Trp139Ter) variant details
- p.Trp139Ter
- NCI-TCGA Cosmic COSV9987
- cosmic curated COSV99877
- NCI-TCGA Cosmic COSV5583
- cosmic curated COSV55839
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.865
- CADD 38.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available