I40M (p.Ile40Met) variant of COL6A3 (Collagen alpha-3(VI) chain)
I40M (p.Ile40Met) in COL6A3 (Collagen alpha-3(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 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
I40M (p.Ile40Met) variant details
- p.Ile40Met
- rs1379366909
- ClinGen CA351228395
- ClinVar RCV003337829
- TOPMed rs1379366909
- Uncertain significance
- Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- REVEL 0.68
- MetaLR 0.72
- MetaSVM 0.16
- CADD 24.00
- PolyPhen-2 0.99
- SIFT 0.06
- ClinVar: Uncertain significance (Bethlem myopathy 1A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)