G319E (p.Gly319Glu) variant of COL1A2 (Collagen alpha-2(I) chain)
G319E (p.Gly319Glu) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta t. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
G319E (p.Gly319Glu) variant details
- p.Gly319Glu
- rs1554396083
- ClinGen CA368220866
- ClinVar RCV000518754
- ClinVar RCV002231000
- Pathogenic
- not provided; Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta t
- Missense
- Variant Prioritization Score for Impact Estimate 0.99
- MutPred 0.99
- ClinVar: Pathogenic (not provided; Ehlers-Danlos syndrome, classic type, 1; Osteogene)
- EBI: Pathogenic (in OI1)
- UniProt: Pathogenic (in OI1)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)