R5Q (p.Arg5Gln) variant of COL6A3 (Collagen alpha-3(VI) chain)
R5Q (p.Arg5Gln) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Collagen 6-related myopathy; Bethlem myopathy 1A; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
R5Q (p.Arg5Gln) variant details
- p.Arg5Gln
- rs765276422
- ClinGen CA2189971
- ClinVar RCV001137217
- ClinVar RCV001371079
- Conflicting interpretations
- Collagen 6-related myopathy; Bethlem myopathy 1A; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.50
- AlphaMissense 0.07
- MetaLR 0.82
- MetaSVM 0.73
- CADD 23.50
- PolyPhen-2 0.87
- ClinVar: Conflicting classifications of pathogenicity (Collagen 6-related myopathy; Bethlem myopathy 1A; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- 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)