G283R (p.Gly283Arg) variant of COL6A2 (Collagen alpha-2(VI) chain)
G283R (p.Gly283Arg) in COL6A2 (Collagen alpha-2(VI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Ullrich congenital muscular dystrophy 1A; Bethlem myopathy 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
G283R (p.Gly283Arg) variant details
- p.Gly283Arg
- rs267606748
- ClinGen CA127112
- ClinVar RCV000269898
- ClinVar RCV000816890
- Pathogenic
- Ullrich congenital muscular dystrophy 1A; Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.973
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.08
- PolyPhen-2 0.96
- SIFT 0.00
- EVE 0.94
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in UCMD1B)
- UniProt: Pathogenic (in UCMD1B)
- Structural context available
- 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)