R97H (p.Arg97His) variant of COL6A3 (Collagen alpha-3(VI) chain)
R97H (p.Arg97His) 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 Bethlem myopathy 1A; not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
R97H (p.Arg97His) variant details
- p.Arg97His
- rs201249839
- ClinGen CA2189895
- ClinVar RCV000295547
- ClinVar RCV000808592
- Conflicting interpretations
- Bethlem myopathy 1A; not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.11
- MetaLR 0.22
- MetaSVM -0.92
- CADD 9.25
- PolyPhen-2 0.00
- SIFT 0.59
- ClinVar: Conflicting classifications of pathogenicity (Bethlem myopathy 1A; not provided; Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00015)
- 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)