G302R (p.Gly302Arg) variant of COL6A1 (Collagen alpha-1(VI) chain)
G302R (p.Gly302Arg) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of COL6A1-related disorder; not provided; Bethlem myopathy 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature.
G302R (p.Gly302Arg) variant details
- p.Gly302Arg
- rs794727028
- ClinGen CA10605766
- ClinVar RCV000489958
- ClinVar RCV005090371
- Pathogenic/Likely pathogenic
- COL6A1-related disorder; not provided; Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.922
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Pathogenic/Likely pathogenic (COL6A1-related disorder; not provided; Bethlem myopathy 1A)
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Collagen VI-Related Dystrophies. (PMID 20301676)
- Cited in: Consensus statement on standard of care for congenital muscular dystrophies. (PMID 21078917)