Y63C (p.Tyr63Cys) variant of COL6A3 (Collagen alpha-3(VI) chain)
Y63C (p.Tyr63Cys) 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 not provided; Bethlem myopathy 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
Y63C (p.Tyr63Cys) variant details
- p.Tyr63Cys
- rs886043105
- ClinGen CA10605116
- ClinVar RCV000333885
- ClinVar RCV001299913
- Uncertain significance
- not provided; Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.28
- MetaLR 0.41
- MetaSVM -0.64
- CADD 19.70
- PolyPhen-2 0.01
- SIFT 0.03
- ClinVar: Uncertain significance (not provided; Bethlem myopathy 1A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)