G775E (p.Gly775Glu) variant of COL1A2 (Collagen alpha-2(I) chain)
G775E (p.Gly775Glu) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1; Ehlers. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
G775E (p.Gly775Glu) variant details
- p.Gly775Glu
- rs1792148801
- ClinGen CA368223704
- NCI-TCGA Cosmic COSV5195
- cosmic curated COSV51957
- Pathogenic/Likely pathogenic
- Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1; Ehlers
- Missense
- Variant Prioritization Score for Impact Estimate 0.973
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.96
- ClinVar: Pathogenic/Likely pathogenic (Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic)
- 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)