R59Q (p.Arg59Gln) variant of COL6A3 (Collagen alpha-3(VI) chain)
R59Q (p.Arg59Gln) 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 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
R59Q (p.Arg59Gln) variant details
- p.Arg59Gln
- rs111577719
- ClinGen CA2189923
- NCI-TCGA Cosmic COSV5509
- ClinVar RCV002651629
- Uncertain significance
- Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.69
- MetaLR 0.42
- MetaSVM -0.45
- CADD 20.60
- PolyPhen-2 0.26
- SIFT 0.08
- ClinVar: Uncertain significance (Bethlem myopathy 1A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- 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)