R118R (p.Arg118Arg) variant of ACTA2 (Actin, aortic smooth muscle)
R118R (p.Arg118Arg) in ACTA2 (Actin, aortic smooth muscle) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
R118R (p.Arg118Arg) variant details
- p.Arg118Arg
- gnomAD 10-88943812-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.255
- CADD 11.40
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available