G283E (p.Gly283Glu) variant of COL6A2 (Collagen alpha-2(VI) chain)
G283E (p.Gly283Glu) 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 not provided; Bethlem myopathy 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
G283E (p.Gly283Glu) variant details
- p.Gly283Glu
- rs886044088
- ClinGen CA10606332
- ClinVar RCV000591727
- ClinVar RCV000657920
- Pathogenic/Likely pathogenic
- not provided; Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.972
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Pathogenic/Likely pathogenic (not provided; Bethlem myopathy 1A)
- EBI: Pathogenic (in UCMD1B)
- UniProt: Pathogenic (in UCMD1B)
- 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)