G295E (p.Gly295Glu) variant of COL6A2 (Collagen alpha-2(VI) chain)
G295E (p.Gly295Glu) in COL6A2 (Collagen alpha-2(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; Bethlem myopathy 1B. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
G295E (p.Gly295Glu) variant details
- p.Gly295Glu
- rs2123626138
- ClinGen CA410525283
- ClinVar RCV001992543
- Ensembl rs2123626138
- Pathogenic/Likely pathogenic
- Bethlem myopathy 1A; Bethlem myopathy 1B
- Missense
- Variant Prioritization Score for Impact Estimate 0.968
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Pathogenic/Likely pathogenic (Bethlem myopathy 1A; Bethlem myopathy 1B)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Collagen VI-Related Dystrophies. (PMID 20301676)
- Cited in: Consensus statement on standard of care for congenital muscular dystrophies. (PMID 21078917)