G493E (p.Gly493Glu) variant of COL1A2 (Collagen alpha-2(I) chain)
G493E (p.Gly493Glu) 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; Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic ty. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
G493E (p.Gly493Glu) variant details
- p.Gly493Glu
- rs72658121
- ClinGen CA162925217
- ClinVar RCV002233928
- ClinVar RCV005429263
- Pathogenic
- not provided; Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic ty
- Missense
- Variant Prioritization Score for Impact Estimate 0.988
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.97
- ClinVar: Pathogenic (not provided; Osteogenesis imperfecta type I; Ehlers-Danlos synd)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)