M1I (p.Met1Ile) variant of COL6A2 (Collagen alpha-2(VI) chain)
M1I (p.Met1Ile) in COL6A2 (Collagen alpha-2(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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes published literature and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs2078397134
- ClinGen CA410518918
- ClinVar RCV001050186
- ClinVar RCV004590059
- Uncertain significance
- Bethlem myopathy 1A; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- MetaLR 0.75
- MetaSVM 0.63
- PolyPhen-2 0.14
- SIFT 0.00
- MutPred 0.99
- ClinVar: Uncertain significance (Bethlem myopathy 1A; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)