L7M (p.Leu7Met) variant of COL6A1 (Collagen alpha-1(VI) chain)
L7M (p.Leu7Met) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Bethlem myopathy 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
L7M (p.Leu7Met) variant details
- p.Leu7Met
- rs1280132890
- ClinGen CA410513800
- ClinVar RCV003018142
- TOPMed rs1280132890
- Uncertain significance
- Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.33
- CADD 23.00
- PolyPhen-2 0.74
- SIFT 0.02
- ClinVar: Uncertain significance (Bethlem myopathy 1A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- 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)