G272D (p.Gly272Asp) variant of COL6A1 (Collagen alpha-1(VI) chain)
G272D (p.Gly272Asp) 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 not provided; Bethlem myopathy 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature.
G272D (p.Gly272Asp) variant details
- p.Gly272Asp
- rs1064793840
- ClinGen CA16621025
- ClinVar RCV000481274
- ClinVar RCV002525796
- Pathogenic
- not provided; Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.927
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Pathogenic (not provided; 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)