G269E (p.Gly269Glu) variant of COL6A1 (Collagen alpha-1(VI) chain)
G269E (p.Gly269Glu) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Bethlem myopathy 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature.
G269E (p.Gly269Glu) variant details
- p.Gly269Glu
- rs2077759104
- ClinGen CA410521350
- ClinVar RCV001091475
- ClinVar RCV001862695
- Pathogenic
- not provided; Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.914
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.68
- ClinVar: Pathogenic (not provided; 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)