M59T (p.Met59Thr) variant of COL6A2 (Collagen alpha-2(VI) chain)
M59T (p.Met59Thr) in COL6A2 (Collagen alpha-2(VI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Bethlem myopathy 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes published literature and structural context.
M59T (p.Met59Thr) variant details
- p.Met59Thr
- rs886043225
- ClinGen CA10605263
- ClinVar RCV000324629
- ClinVar RCV001301872
- Conflicting interpretations
- not provided; Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- AlphaMissense 0.43
- MetaLR 0.47
- MetaSVM -0.11
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.32
- ClinVar: Conflicting classifications of pathogenicity (not provided; Bethlem myopathy 1A)
- 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)