E73G (p.Glu73Gly) variant of COL6A3 (Collagen alpha-3(VI) chain)
E73G (p.Glu73Gly) 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 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
E73G (p.Glu73Gly) variant details
- p.Glu73Gly
- rs138570455
- ClinGen CA2189916
- ClinVar RCV000706202
- ESP rs138570455
- Uncertain significance
- Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.17
- MetaLR 0.34
- MetaSVM -0.77
- CADD 20.40
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Bethlem myopathy 1A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)