T63M (p.Thr63Met) variant of COL6A2 (Collagen alpha-2(VI) chain)
T63M (p.Thr63Met) 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 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
T63M (p.Thr63Met) variant details
- p.Thr63Met
- rs201094892
- ClinGen CA10071227
- cosmic curated COSV56009
- ClinVar RCV000337273
- Conflicting interpretations
- not provided; Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.25
- CADD 21.40
- PolyPhen-2 0.80
- SIFT 0.14
- ClinVar: Conflicting classifications of pathogenicity (not provided; Bethlem myopathy 1A)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 0.00012)
- 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)