G281R (p.Gly281Arg) variant of COL6A1 (Collagen alpha-1(VI) chain)
G281R (p.Gly281Arg) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of COL6A1-related disorder; not provided; Bethlem myopathy 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature.
G281R (p.Gly281Arg) variant details
- p.Gly281Arg
- rs267606746
- ClinGen CA257743
- ClinVar RCV000018722
- ClinVar RCV000497629
- Pathogenic
- COL6A1-related disorder; not provided; Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.905
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- ClinVar: Pathogenic (COL6A1-related disorder; not provided; Bethlem myopathy 1A)
- EBI: Pathogenic (in UCMD1A)
- UniProt: Pathogenic (in UCMD1A)
- Cited in: Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular… (PMID 15689448)
- Cited in: Natural history of Ullrich congenital muscular dystrophy. (PMID 19564581)