C777R (p.Cys777Arg) variant of COL6A2 (Collagen alpha-2(VI) chain)
C777R (p.Cys777Arg) in COL6A2 (Collagen alpha-2(VI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Bethlem myopathy 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
C777R (p.Cys777Arg) variant details
- p.Cys777Arg
- rs267606747
- ClinGen CA257728
- cosmic curated COSV55998
- ClinVar RCV000529271
- Pathogenic/Likely pathogenic
- not provided; Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- REVEL 0.76
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Bethlem myopathy 1A)
- EBI: Pathogenic (in BTHLM1B)
- UniProt: Pathogenic (in BTHLM1B)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- 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)