T95M (p.Thr95Met) variant of COL6A3 (Collagen alpha-3(VI) chain)
T95M (p.Thr95Met) in COL6A3 (Collagen alpha-3(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 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
T95M (p.Thr95Met) variant details
- p.Thr95Met
- rs769697782
- ClinGen CA2189899
- ClinVar RCV000309154
- ClinVar RCV001365391
- Conflicting interpretations
- not provided; Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- REVEL 0.63
- MetaLR 0.60
- MetaSVM -0.09
- CADD 25.80
- PolyPhen-2 0.87
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Bethlem myopathy 1A)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- 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)