G287E (p.Gly287Glu) variant of COL6A1 (Collagen alpha-1(VI) chain)
G287E (p.Gly287Glu) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Bethlem myopathy 1A; Ullrich congenital muscular dystrophy 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature.
G287E (p.Gly287Glu) variant details
- p.Gly287Glu
- rs2077761954
- ClinGen CA410521718
- ClinVar RCV001039119
- ClinVar RCV003989629
- Conflicting interpretations
- Bethlem myopathy 1A; Ullrich congenital muscular dystrophy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.917
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Conflicting classifications of pathogenicity (Bethlem myopathy 1A; Ullrich congenital muscular dystrophy 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)