E102Q (p.Glu102Gln) variant of ACTA2 (Actin, aortic smooth muscle)
E102Q (p.Glu102Gln) in ACTA2 (Actin, aortic smooth muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
E102Q (p.Glu102Gln) variant details
- p.Glu102Gln
- TOPMed rs1412507561
- gnomAD rs1412507561
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- REVEL 0.88
- CADD 27.40
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available