G271V (p.Gly271Val) variant of COL6A2 (Collagen alpha-2(VI) chain)
G271V (p.Gly271Val) 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; COL6A2-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
G271V (p.Gly271Val) variant details
- p.Gly271Val
- rs794727788
- ClinGen CA410524658
- ClinVar RCV000533493
- Ensembl rs794727788
- Pathogenic/Likely pathogenic
- Bethlem myopathy 1A; COL6A2-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.976
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- ClinVar: Pathogenic/Likely pathogenic (Bethlem myopathy 1A; COL6A2-related disorder)
- EBI: Pathogenic (in BTHLM1B)
- UniProt: Pathogenic (in BTHLM1B)
- 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)