D82E (p.Asp82Glu) variant of ACTA2 (Actin, aortic smooth muscle)
D82E (p.Asp82Glu) in ACTA2 (Actin, aortic smooth muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Familial thoracic aortic aneurysm and aortic dissection; Aortic aneurysm, famili. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes published literature and structural context.
D82E (p.Asp82Glu) variant details
- p.Asp82Glu
- rs1254836237
- ClinGen CA377513303
- ClinVar RCV000645625
- ClinVar RCV002458093
- Conflicting interpretations
- Familial thoracic aortic aneurysm and aortic dissection; Aortic aneurysm, famili
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- AlphaMissense 0.90
- MetaLR 0.73
- MetaSVM 0.23
- PolyPhen-2 0.00
- EVE 0.35
- MutPred 0.84
- ClinVar: Conflicting classifications of pathogenicity (Familial thoracic aortic aneurysm and aortic dissection; Aortic)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)