G301S (p.Gly301Ser) variant of COL6A2 (Collagen alpha-2(VI) chain)
G301S (p.Gly301Ser) 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 0.96 / 1. The record also includes published literature and structural context.
G301S (p.Gly301Ser) variant details
- p.Gly301Ser
- rs886042705
- ClinGen CA10604587
- cosmic curated COSV10642
- ClinVar RCV000337509
- Pathogenic
- not provided; Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.962
- AlphaMissense 0.97
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.89
- ClinVar: Pathogenic (not provided; Bethlem myopathy 1A)
- 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)