V47L (p.Val47Leu) variant of ACTA2 (Actin, aortic smooth muscle)
V47L (p.Val47Leu) in ACTA2 (Actin, aortic smooth muscle) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
V47L (p.Val47Leu) variant details
- p.Val47Leu
- gnomAD rs1181233032
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- REVEL 0.77
- CADD 23.90
- PolyPhen-2 0.03
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available