W48C (p.Trp48Cys) variant of COL6A3 (Collagen alpha-3(VI) chain)
W48C (p.Trp48Cys) 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 Bethlem myopathy 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
W48C (p.Trp48Cys) variant details
- p.Trp48Cys
- rs2469975213
- ClinGen CA351228344
- ClinVar RCV003631688
- Uncertain significance
- Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.683
- REVEL 0.73
- MetaLR 0.59
- MetaSVM 0.29
- CADD 24.30
- PolyPhen-2 0.75
- SIFT 0.00
- ClinVar: Uncertain significance (Bethlem myopathy 1A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- 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)