R30S (p.Arg30Ser) variant of ACTA2 (Actin, aortic smooth muscle)
R30S (p.Arg30Ser) in ACTA2 (Actin, aortic smooth muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
R30S (p.Arg30Ser) variant details
- p.Arg30Ser
- gnomAD rs1445850454
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- REVEL 0.75
- CADD 23.70
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available