G294R (p.Gly294Arg) variant of COL3A1 (Collagen alpha-1(III) chain)
G294R (p.Gly294Arg) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.93 / 1. The record also includes published literature and structural context.
G294R (p.Gly294Arg) variant details
- p.Gly294Arg
- rs2153502094
- ClinGen CA349849922
- ClinVar RCV001993916
- ClinVar RCV005401884
- Likely pathogenic
- Ehlers-Danlos syndrome, type 4; Familial thoracic aortic aneurysm and aortic dis
- Missense
- Variant Prioritization Score for Impact Estimate 0.928
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.72
- ClinVar: Likely pathogenic (Ehlers-Danlos syndrome, type 4; Familial thoracic aortic aneurys)
- EBI: Likely pathogenic
- UniProt: Likely 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)