F23L (p.Phe23Leu) variant of ACTA2 (Actin, aortic smooth muscle)
F23L (p.Phe23Leu) 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.
F23L (p.Phe23Leu) variant details
- p.Phe23Leu
- ExAC rs759122203
- gnomAD rs759122203
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- REVEL 0.81
- CADD 22.10
- PolyPhen-2 0.60
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available