G318D (p.Gly318Asp) variant of COL3A1 (Collagen alpha-1(III) chain)
G318D (p.Gly318Asp) 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 Familial thoracic aortic aneurysm and aortic dissection; Ehlers-Danlos syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
G318D (p.Gly318Asp) variant details
- p.Gly318Asp
- rs1553507614
- ClinGen CA349850075
- cosmic curated COSV58581
- ClinVar RCV000634711
- Pathogenic/Likely pathogenic
- Familial thoracic aortic aneurysm and aortic dissection; Ehlers-Danlos syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.915
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- ClinVar: Pathogenic/Likely pathogenic (Familial thoracic aortic aneurysm and aortic dissection; Ehlers-)
- 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)