Q26R (p.Gln26Arg) variant of COL6A3 (Collagen alpha-3(VI) chain)
Q26R (p.Gln26Arg) 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 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
Q26R (p.Gln26Arg) variant details
- p.Gln26Arg
- rs1381568881
- ClinGen CA351229169
- ClinVar RCV001960175
- gnomAD rs1381568881
- Uncertain significance
- Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.29
- AlphaMissense 0.23
- MetaLR 0.88
- MetaSVM 0.90
- CADD 23.00
- PolyPhen-2 0.99
- ClinVar: Uncertain significance (Bethlem myopathy 1A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-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)