R133* (p.Arg133Ter) variant of KRT8 (Keratin, type II cytoskeletal 8)
R133* (p.Arg133Ter) in KRT8 (Keratin, type II cytoskeletal 8) 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 0.38 / 1. The record also includes population frequency data.
R133* (p.Arg133Ter) variant details
- p.Arg133Ter
- rs141850020
- cosmic curated COSV99510
- ESP rs141850020
- ExAC rs141850020
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.378
- CADD 33.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)