E451K (p.Glu451Lys) variant of COL3A1 (Collagen alpha-1(III) chain)
E451K (p.Glu451Lys) 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; Ehlers-Danlos syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes published literature and structural context.
E451K (p.Glu451Lys) variant details
- p.Glu451Lys
- rs1559056438
- ClinGen CA349851735
- ClinVar RCV000680211
- ClinVar RCV001771925
- Pathogenic/Likely pathogenic
- Familial thoracic aortic aneurysm and aortic dissection; Ehlers-Danlos syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- AlphaMissense 0.58
- MetaLR 0.68
- MetaSVM 0.21
- PolyPhen-2 0.96
- SIFT 0.17
- EVE 0.25
- ClinVar: Pathogenic/Likely pathogenic (Familial thoracic aortic aneurysm and aortic dissection; Ehlers-)
- 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)