Q26* (p.Gln26Ter) variant of COL6A3 (Collagen alpha-3(VI) chain)
Q26* (p.Gln26Ter) 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
Q26* (p.Gln26Ter) variant details
- p.Gln26Ter
- rs763187844
- ClinGen CA2189961
- cosmic curated COSV55086
- ClinVar RCV000543703
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.814
- CADD 34.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- 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)