G19D (p.Gly19Asp) variant of COL6A3 (Collagen alpha-3(VI) chain)
G19D (p.Gly19Asp) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Bethlem myopathy 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
G19D (p.Gly19Asp) variant details
- p.Gly19Asp
- rs1181810990
- ClinGen CA351229212
- ClinVar RCV003074513
- TOPMed rs1181810990
- Likely benign
- Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.45
- AlphaMissense 0.50
- MetaLR 0.42
- MetaSVM -0.16
- CADD 24.20
- PolyPhen-2 1.00
- ClinVar: Likely benign (Bethlem myopathy 1A)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- 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)