R97C (p.Arg97Cys) variant of COL6A3 (Collagen alpha-3(VI) chain)
R97C (p.Arg97Cys) 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 not specified; not provided; Bethlem myopathy 1A. 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.
R97C (p.Arg97Cys) variant details
- p.Arg97Cys
- rs144651558
- ClinGen CA2189897
- ClinVar RCV000812051
- ClinVar RCV005432443
- Conflicting interpretations
- not specified; not provided; Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.38
- MetaLR 0.53
- MetaSVM -0.35
- CADD 23.00
- PolyPhen-2 0.55
- SIFT 0.06
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Bethlem myopathy 1A)
- EBI: Benign
- UniProt: Benign
- Most common in the East Asian population (allele frequency 2.5e-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)