G756E (p.Gly756Glu) variant of COL3A1 (Collagen alpha-1(III) chain)
G756E (p.Gly756Glu) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Ehlers-Danlos syndrome, type 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G756E (p.Gly756Glu) variant details
- p.Gly756Glu
- rs1576468562
- ClinGen CA349841179
- NCI-TCGA Cosmic COSV5858
- cosmic curated COSV58589
- Pathogenic/Likely pathogenic
- Ehlers-Danlos syndrome, type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.912
- REVEL 0.98
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Ehlers-Danlos syndrome, type 4)
- EBI: Pathogenic (in EDSVASC)
- UniProt: Pathogenic (in EDSVASC)
- Population evidence available
- Structural context available
- Cited in: Substitution of glutamic acid for glycine 589 in the triple-helical domain of type III procollagen (COL3A1) in a family… (PMID 7912131)
- Cited in: Vascular Ehlers-Danlos Syndrome. (PMID 20301667)