G341V (p.Gly341Val) variant of COL6A1 (Collagen alpha-1(VI) chain)
G341V (p.Gly341Val) 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 0.92 / 1. The record also includes published literature.
G341V (p.Gly341Val) variant details
- p.Gly341Val
- rs121912935
- ClinGen CA10604208
- ClinVar RCV000267474
- ClinVar RCV000521707
- Pathogenic
- COL6A1-related disorder; not provided; Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.925
- AlphaMissense 0.96
- MetaLR 0.99
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Pathogenic (COL6A1-related disorder; not provided; Bethlem myopathy 1A)
- EBI: Pathogenic (in BTHLM1A)
- UniProt: Pathogenic (in BTHLM1A)
- Cited in: Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular… (PMID 15689448)
- Cited in: Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy. (PMID 15955946)