G275V (p.Gly275Val) variant of COL6A1 (Collagen alpha-1(VI) chain)
G275V (p.Gly275Val) 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 Inborn genetic diseases; Bethlem myopathy 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature.
G275V (p.Gly275Val) variant details
- p.Gly275Val
- rs1556425468
- ClinGen CA410521483
- ClinVar RCV000624350
- ClinVar RCV000689918
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.922
- AlphaMissense 0.95
- MetaLR 0.98
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Bethlem myopathy 1A)
- EBI: Pathogenic (in BTHLM1A)
- UniProt: Pathogenic (in BTHLM1A)
- Cited in: Collagen VI-Related Dystrophies. (PMID 20301676)
- Cited in: Consensus statement on standard of care for congenital muscular dystrophies. (PMID 21078917)