G1065E (p.Gly1065Glu) variant of COL3A1 (Collagen alpha-1(III) chain)
G1065E (p.Gly1065Glu) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
G1065E (p.Gly1065Glu) variant details
- p.Gly1065Glu
- rs1553509430
- ClinGen CA349845199
- ClinVar RCV000552040
- ClinVar RCV004546514
- Pathogenic/Likely pathogenic
- Ehlers-Danlos syndrome, type 4; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.91
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.68
- ClinVar: Pathogenic/Likely pathogenic (Ehlers-Danlos syndrome, type 4; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Vascular Ehlers-Danlos Syndrome. (PMID 20301667)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)