W16R (p.Trp16Arg) variant of COL6A1 (Collagen alpha-1(VI) chain)
W16R (p.Trp16Arg) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Ullrich congenital muscular dystrophy 1A; Bethlem myopathy 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
W16R (p.Trp16Arg) variant details
- p.Trp16Arg
- rs760101861
- ClinGen CA10069427
- ClinVar RCV003631422
- ClinVar RCV004786986
- Conflicting interpretations
- Ullrich congenital muscular dystrophy 1A; Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.62
- CADD 26.50
- PolyPhen-2 0.99
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (Ullrich congenital muscular dystrophy 1A; Bethlem myopathy 1A)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)