G299R (p.Gly299Arg) variant of COL6A1 (Collagen alpha-1(VI) chain)
G299R (p.Gly299Arg) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Bethlem myopathy 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature.
G299R (p.Gly299Arg) variant details
- p.Gly299Arg
- rs2077762322
- ClinGen CA410521843
- cosmic curated COSV10745
- ClinVar RCV001070303
- Pathogenic
- Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.927
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.74
- ClinVar: Pathogenic (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)