G290R (p.Gly290Arg) variant of COL6A1 (Collagen alpha-1(VI) chain)
G290R (p.Gly290Arg) 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 Bethlem myopathy 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature.
G290R (p.Gly290Arg) variant details
- p.Gly290Arg
- rs121912939
- ClinGen CA127117
- ClinVar RCV001851922
- ClinVar RCV003764607
- Pathogenic
- Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.924
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Pathogenic (Bethlem myopathy 1A)
- EBI: Pathogenic (in BTHLM1A and UCMD1A)
- UniProt: Pathogenic (in BTHLM1A and UCMD1A)
- Cited in: Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy. (PMID 16130093)
- Cited in: Natural history of Ullrich congenital muscular dystrophy. (PMID 19564581)