Q82R (p.Gln82Arg) variant of COL6A3 (Collagen alpha-3(VI) chain)
Q82R (p.Gln82Arg) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Bethlem myopathy 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
Q82R (p.Gln82Arg) variant details
- p.Gln82Arg
- rs2078398652
- ClinGen CA351227941
- ClinVar RCV003518427
- TOPMed rs2078398652
- Uncertain significance
- Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- AlphaMissense 0.10
- MetaLR 0.43
- MetaSVM -0.54
- PolyPhen-2 0.01
- SIFT 0.14
- MutPred 0.82
- ClinVar: Uncertain significance (Bethlem myopathy 1A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)