G328R (p.Gly328Arg) variant of COL6A2 (Collagen alpha-2(VI) chain)
G328R (p.Gly328Arg) in COL6A2 (Collagen alpha-2(VI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Ullrich congenital muscular dystrophy 1A; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
G328R (p.Gly328Arg) variant details
- p.Gly328Arg
- rs779867653
- ClinGen CA321963358
- ClinVar RCV001706917
- ClinVar RCV005001234
- Likely pathogenic
- Ullrich congenital muscular dystrophy 1A; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.853
- REVEL 0.88
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Ullrich congenital muscular dystrophy 1A; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Middle Eastern population (allele frequency 0.0007)
- 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)