A133S (p.Ala133Ser) variant of ACTA2 (Actin, aortic smooth muscle)
A133S (p.Ala133Ser) in ACTA2 (Actin, aortic smooth muscle) is a missense change. 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.
A133S (p.Ala133Ser) variant details
- p.Ala133Ser
- Ensembl rs1845860425
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- REVEL 0.76
- CADD 22.70
- PolyPhen-2 0.10
- SIFT 0.07
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available