V71M (p.Val71Met) variant of COL6A3 (Collagen alpha-3(VI) chain)
V71M (p.Val71Met) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Bethlem myopathy 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
V71M (p.Val71Met) variant details
- p.Val71Met
- rs1202531106
- ClinGen CA351228121
- ClinVar RCV003036684
- gnomAD rs1202531106
- Likely benign
- Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.633
- REVEL 0.64
- MetaLR 0.66
- MetaSVM 0.54
- CADD 25.10
- PolyPhen-2 0.87
- SIFT 0.01
- ClinVar: Likely benign (Bethlem myopathy 1A)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Cited in: Collagen VI-Related Dystrophies. (PMID 20301676)
- Cited in: Consensus statement on standard of care for congenital muscular dystrophies. (PMID 21078917)