V36M (p.Val36Met) variant of COL6A1 (Collagen alpha-1(VI) chain)
V36M (p.Val36Met) in COL6A1 (Collagen alpha-1(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 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
V36M (p.Val36Met) variant details
- p.Val36Met
- rs769258891
- ClinGen CA10069466
- ClinVar RCV003061147
- ExAC rs769258891
- Likely benign
- Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- REVEL 0.65
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely benign (Bethlem myopathy 1A)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- 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)