R59* (p.Arg59Ter) variant of COL6A3 (Collagen alpha-3(VI) chain)
R59* (p.Arg59Ter) in COL6A3 (Collagen alpha-3(VI) chain) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
R59* (p.Arg59Ter) variant details
- p.Arg59Ter
- rs398124119
- ClinGen CA222591
- ClinVar RCV000080916
- ClinVar RCV000280500
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.736
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Collagen VI-Related Dystrophies. (PMID 20301676)
- Cited in: Consensus statement on standard of care for congenital muscular dystrophies. (PMID 21078917)