G292V (p.Gly292Val) variant of COL6A2 (Collagen alpha-2(VI) chain)
G292V (p.Gly292Val) in COL6A2 (Collagen alpha-2(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 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
G292V (p.Gly292Val) variant details
- p.Gly292Val
- rs794727855
- ClinGen CA275394
- ClinVar RCV000179831
- ClinVar RCV000179832
- Pathogenic
- not provided; Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.924
- REVEL 0.99
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 1.01
- CADD 30.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic (not provided; Bethlem myopathy 1A)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- 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)