E95K (p.Glu95Lys) variant of ACTA2 (Actin, aortic smooth muscle)
E95K (p.Glu95Lys) in ACTA2 (Actin, aortic smooth muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial thoracic aortic aneurysm and aortic dissection; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
E95K (p.Glu95Lys) variant details
- p.Glu95Lys
- rs1064796442
- ClinGen CA16619077
- ClinVar RCV000486179
- ClinVar RCV002438182
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- AlphaMissense 1.00
- MetaLR 0.93
- MetaSVM 1.05
- PolyPhen-2 1.00
- EVE 0.47
- MutPred 0.90
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; not pro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)
- Cited in: Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. (PMID 24882528)