R97C (p.Arg97Cys) variant of ACTA2 (Actin, aortic smooth muscle)
R97C (p.Arg97Cys) 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 0.90 / 1. The record also includes population frequency data and structural context.
R97C (p.Arg97Cys) variant details
- p.Arg97Cys
- rs1268825216
- NCI-TCGA Cosmic COSV5651
- TOPMed rs1268825216
- gnomAD rs1268825216
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.903
- REVEL 0.95
- CADD 33.00
- PolyPhen-2 0.98
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available