R132* (p.Arg132Ter) variant of COL17A1 (Collagen alpha-1(XVII) chain)
R132* (p.Arg132Ter) in COL17A1 (Collagen alpha-1(XVII) chain) 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 0.47 / 1. The record also includes population frequency data.
R132* (p.Arg132Ter) variant details
- p.Arg132Ter
- NCI-TCGA Cosmic COSV1007
- cosmic curated COSV10079
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.47
- CADD 36.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the HGDP:YAKUT population (allele frequency 0.04)