G263V (p.Gly263Val) variant of COL6A1 (Collagen alpha-1(VI) chain)
G263V (p.Gly263Val) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Collagen 6-related myopathy; Bethlem myopathy 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature.
G263V (p.Gly263Val) variant details
- p.Gly263Val
- rs886043351
- ClinGen CA410520838
- ClinVar RCV000691514
- ClinVar RCV005092007
- Pathogenic/Likely pathogenic
- Collagen 6-related myopathy; Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.922
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Pathogenic/Likely pathogenic (Collagen 6-related myopathy; Bethlem myopathy 1A)
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Collagen VI-Related Dystrophies. (PMID 20301676)
- Cited in: Consensus statement on standard of care for congenital muscular dystrophies. (PMID 21078917)