G301D (p.Gly301Asp) variant of COL6A2 (Collagen alpha-2(VI) chain)
G301D (p.Gly301Asp) 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 Inborn genetic diseases; 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.
G301D (p.Gly301Asp) variant details
- p.Gly301Asp
- rs1555872965
- ClinGen CA410525581
- ClinVar RCV000624324
- ClinVar RCV002532835
- Pathogenic
- Inborn genetic diseases; not provided; Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.961
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.87
- ClinVar: Pathogenic (Inborn genetic diseases; 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)