V98I (p.Val98Ile) variant of ACTA2 (Actin, aortic smooth muscle)
V98I (p.Val98Ile) in ACTA2 (Actin, aortic smooth muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
V98I (p.Val98Ile) variant details
- p.Val98Ile
- Ensembl rs1564645780
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- REVEL 0.56
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available