E73* (p.Glu73Ter) variant of COL6A3 (Collagen alpha-3(VI) chain)
E73* (p.Glu73Ter) 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 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
E73* (p.Glu73Ter) variant details
- p.Glu73Ter
- rs775433277
- ClinGen CA351228091
- ClinVar RCV003632206
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.523
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-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)