G281E (p.Gly281Glu) variant of COL6A1 (Collagen alpha-1(VI) chain)
G281E (p.Gly281Glu) 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 not provided; 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.
G281E (p.Gly281Glu) variant details
- p.Gly281Glu
- rs886041383
- ClinGen CA10603503
- ClinVar RCV000387642
- ClinVar RCV001855058
- Pathogenic/Likely pathogenic
- not provided; Bethlem myopathy 1A; Ullrich congenital muscular dystrophy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.921
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Pathogenic/Likely pathogenic (not provided; Bethlem myopathy 1A; Ullrich congenital muscular d)
- EBI: Pathogenic (in UCMD1A)
- UniProt: Pathogenic (in UCMD1A)
- Cited in: Collagen VI-Related Dystrophies. (PMID 20301676)
- Cited in: Consensus statement on standard of care for congenital muscular dystrophies. (PMID 21078917)