R118L (p.Arg118Leu) variant of ACTA2 (Actin, aortic smooth muscle)
R118L (p.Arg118Leu) in ACTA2 (Actin, aortic smooth muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
R118L (p.Arg118Leu) variant details
- p.Arg118Leu
- gnomAD 10-88943813-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.887
- REVEL 0.94
- CADD 29.00
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available