E95D (p.Glu95Asp) variant of ACTA2 (Actin, aortic smooth muscle)
E95D (p.Glu95Asp) in ACTA2 (Actin, aortic smooth muscle) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
E95D (p.Glu95Asp) variant details
- p.Glu95Asp
- ExAC rs748465638
- TOPMed rs748465638
- gnomAD rs748465638
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- REVEL 0.85
- CADD 22.80
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available