G213D (p.Gly213Asp) variant of COL3A1 (Collagen alpha-1(III) chain)
G213D (p.Gly213Asp) 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; not provided; Ehlers-Da. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes population frequency data, published literature, and structural context.
G213D (p.Gly213Asp) variant details
- p.Gly213Asp
- rs2153501864
- ClinGen CA349848742
- ClinVar RCV001508125
- ClinVar RCV001859347
- Pathogenic/Likely pathogenic
- Familial thoracic aortic aneurysm and aortic dissection; not provided; Ehlers-Da
- Missense
- Variant Prioritization Score for Impact Estimate 0.939
- REVEL 1.00
- MetaLR 0.99
- MetaSVM 0.96
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.42
- ClinVar: Pathogenic/Likely pathogenic (Familial thoracic aortic aneurysm and aortic dissection; not pro)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- 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)