D58E (p.Asp58Glu) variant of ACTA2 (Actin, aortic smooth muscle)
D58E (p.Asp58Glu) 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 Aortic aneurysm, familial thoracic 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
D58E (p.Asp58Glu) variant details
- p.Asp58Glu
- 1000Genomes rs150547139
- ESP rs150547139
- ExAC rs150547139
- TOPMed rs150547139
- Uncertain significance
- Aortic aneurysm, familial thoracic 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.73
- CADD 13.70
- PolyPhen-2 0.20
- SIFT 0.05
- ClinVar: Uncertain significance (Aortic aneurysm, familial thoracic 6)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available