G2053V (p.Gly2053Val) variant of COL6A3 (Collagen alpha-3(VI) chain)
G2053V (p.Gly2053Val) in COL6A3 (Collagen alpha-3(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 0.94 / 1. The record also includes published literature and structural context.
G2053V (p.Gly2053Val) variant details
- p.Gly2053Val
- rs886041329
- ClinGen CA10602841
- cosmic curated COSV55106
- ClinVar RCV000334260
- Pathogenic
- not provided; Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.937
- AlphaMissense 0.90
- MetaLR 0.99
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.82
- 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)