Q21R (p.Gln21Arg) variant of COL6A2 (Collagen alpha-2(VI) chain)
Q21R (p.Gln21Arg) in COL6A2 (Collagen alpha-2(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 population frequency data, published literature, and structural context.
Q21R (p.Gln21Arg) variant details
- p.Gln21Arg
- rs751632108
- ClinGen CA10071167
- ClinVar RCV001948627
- ExAC rs751632108
- Uncertain significance
- Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.37
- CADD 22.80
- PolyPhen-2 0.05
- SIFT 0.02
- ClinVar: Uncertain significance (Bethlem myopathy 1A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-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)