G275R (p.Gly275Arg) variant of COL6A1 (Collagen alpha-1(VI) chain)
G275R (p.Gly275Arg) 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 0.92 / 1. The record also includes published literature.
G275R (p.Gly275Arg) variant details
- p.Gly275Arg
- rs1556425467
- ClinGen CA410521473
- ClinVar RCV001384957
- Ensembl rs1556425467
- Pathogenic
- Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.923
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Pathogenic (Bethlem myopathy 1A)
- EBI: Pathogenic (in BTHLM1A)
- UniProt: Pathogenic (in BTHLM1A)
- Cited in: Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy. (PMID 15955946)
- Cited in: Collagen VI-Related Dystrophies. (PMID 20301676)