G744C (p.Gly744Cys) variant of COL3A1 (Collagen alpha-1(III) chain)
G744C (p.Gly744Cys) 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 not provided; Familial thoracic aortic aneurysm and aortic dissection; Ehlers-Da. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes population frequency data, published literature, and structural context.
G744C (p.Gly744Cys) variant details
- p.Gly744Cys
- rs2153503061
- ClinGen CA349841106
- ClinVar RCV002428247
- ClinVar RCV003633664
- Pathogenic/Likely pathogenic
- not provided; Familial thoracic aortic aneurysm and aortic dissection; Ehlers-Da
- Missense
- Variant Prioritization Score for Impact Estimate 0.933
- REVEL 0.99
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 1.00
- CADD 34.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Familial thoracic aortic aneurysm and aortic disse)
- EBI: Pathogenic (in EDSVASC)
- UniProt: Pathogenic (in EDSVASC)
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- 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)