R5W (p.Arg5Trp) variant of COL6A3 (Collagen alpha-3(VI) chain)
R5W (p.Arg5Trp) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Bethlem myopathy 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
R5W (p.Arg5Trp) variant details
- p.Arg5Trp
- rs752738273
- ClinGen CA2189972
- ClinVar RCV001206186
- ExAC rs752738273
- Likely benign
- Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- REVEL 0.56
- MetaLR 0.78
- MetaSVM 0.45
- CADD 29.70
- PolyPhen-2 0.96
- SIFT 0.03
- ClinVar: Likely benign (Bethlem myopathy 1A)
- EBI: Likely benign
- UniProt: Likely benign
- 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)