G271S (p.Gly271Ser) variant of COL6A2 (Collagen alpha-2(VI) chain)
G271S (p.Gly271Ser) 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 Bethlem myopathy 1B; not provided; 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.
G271S (p.Gly271Ser) variant details
- p.Gly271Ser
- rs121912940
- ClinGen CA257720
- ClinVar RCV000018695
- ClinVar RCV001781280
- Pathogenic
- Bethlem myopathy 1B; not provided; Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.966
- AlphaMissense 0.97
- MetaLR 0.98
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.90
- ClinVar: Pathogenic (Bethlem myopathy 1B; not provided; Bethlem myopathy 1A)
- EBI: Pathogenic (in BTHLM1B)
- UniProt: Pathogenic (in BTHLM1B)
- Structural context available
- Cited in: Further investigations on benign myopathy with autosomal dominant inheritance. (PMID 75955)
- Cited in: Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures. (PMID 8782832)