G275E (p.Gly275Glu) variant of COL6A1 (Collagen alpha-1(VI) chain)
G275E (p.Gly275Glu) 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 Bethlem myopathy 1A; Collagen 6-related myopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature.
G275E (p.Gly275Glu) variant details
- p.Gly275Glu
- rs1556425468
- ClinGen CA410521479
- ClinVar RCV001795603
- ClinVar RCV006458671
- Pathogenic/Likely pathogenic
- Bethlem myopathy 1A; Collagen 6-related myopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.922
- AlphaMissense 0.95
- MetaLR 0.98
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Pathogenic/Likely pathogenic (Bethlem myopathy 1A; Collagen 6-related myopathy)
- EBI: Pathogenic (in BTHLM1A)
- UniProt: Pathogenic (in BTHLM1A)
- Cited in: Collagen VI-Related Dystrophies. (PMID 20301676)
- Cited in: Consensus statement on standard of care for congenital muscular dystrophies. (PMID 21078917)