Q27R (p.Gln27Arg) variant of COL6A3 (Collagen alpha-3(VI) chain)
Q27R (p.Gln27Arg) 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 0.45 / 1. The record also includes published literature and structural context.
Q27R (p.Gln27Arg) variant details
- p.Gln27Arg
- rs1327330428
- ClinGen CA351229157
- ClinVar RCV003518214
- TOPMed rs1327330428
- Uncertain significance
- Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- AlphaMissense 0.09
- MetaLR 0.49
- MetaSVM -0.39
- PolyPhen-2 0.02
- SIFT 0.11
- MutPred 0.23
- ClinVar: Uncertain significance (Bethlem myopathy 1A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)