G552R (p.Gly552Arg) variant of COL3A1 (Collagen alpha-1(III) chain)
G552R (p.Gly552Arg) 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 0.92 / 1. The record also includes published literature and structural context.
G552R (p.Gly552Arg) variant details
- p.Gly552Arg
- rs1688305296
- ClinGen CA349852509
- ClinVar RCV001050941
- Ensembl rs1688305296
- Pathogenic/Likely pathogenic
- Ehlers-Danlos syndrome, type 4; Familial thoracic aortic aneurysm and aortic dis
- Missense
- Variant Prioritization Score for Impact Estimate 0.924
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Pathogenic/Likely pathogenic (Ehlers-Danlos syndrome, type 4; Familial thoracic aortic aneurys)
- EBI: Pathogenic (in EDSVASC)
- UniProt: Pathogenic (in EDSVASC)
- 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)