C2Y (p.Cys2Tyr) variant of ACTA2 (Actin, aortic smooth muscle)
C2Y (p.Cys2Tyr) in ACTA2 (Actin, aortic smooth muscle) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
C2Y (p.Cys2Tyr) variant details
- p.Cys2Tyr
- rs750805652
- ExAC rs750805652
- gnomAD rs750805652
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- REVEL 0.54
- CADD 24.20
- PolyPhen-2 0.01
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available