G624E (p.Gly624Glu) variant of COL3A1 (Collagen alpha-1(III) chain)
G624E (p.Gly624Glu) 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; Familial thoracic aortic aneurysm and aortic dis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
G624E (p.Gly624Glu) variant details
- p.Gly624Glu
- rs1553508463
- ClinGen CA349853647
- NCI-TCGA Cosmic COSV1004
- cosmic curated COSV10048
- Pathogenic/Likely pathogenic
- Ehlers-Danlos syndrome, type 4; Familial thoracic aortic aneurysm and aortic dis
- Missense
- Variant Prioritization Score for Impact Estimate 0.914
- AlphaMissense 0.99
- MetaLR 0.96
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Pathogenic/Likely pathogenic (Ehlers-Danlos syndrome, type 4; Familial thoracic aortic aneurys)
- 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)