G1679E (p.Gly1679Glu) variant of COL6A3 (Collagen alpha-3(VI) chain)
G1679E (p.Gly1679Glu) in COL6A3 (Collagen alpha-3(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 1C; not provided; Bethlem myopathy 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
G1679E (p.Gly1679Glu) variant details
- p.Gly1679Glu
- rs121434553
- ClinGen CA239569
- ClinVar RCV000018689
- ClinVar RCV000790696
- Pathogenic/Likely pathogenic
- Bethlem myopathy 1C; not provided; Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- AlphaMissense 0.99
- MetaLR 0.77
- MetaSVM 0.76
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.77
- ClinVar: Pathogenic/Likely pathogenic (Bethlem myopathy 1C; not provided; Bethlem myopathy 1A)
- EBI: Pathogenic (in BTHLM1C)
- UniProt: Pathogenic (in BTHLM1C)
- Structural context available
- Cited in: Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular… (PMID 15689448)
- Cited in: Early-onset benign autosomal dominant limb-girdle myopathy with contractures (Bethlem myopathy). (PMID 3352914)