R149C (p.Arg149Cys) variant of ACTA2 (Actin, aortic smooth muscle)
R149C (p.Arg149Cys) in ACTA2 (Actin, aortic smooth muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cardiovascular phenotype; not provided; Familial thoracic aortic aneurysm and ao. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
R149C (p.Arg149Cys) variant details
- p.Arg149Cys
- rs121434526
- ClinGen CA006936
- ClinVar RCV000019938
- ClinVar RCV000246692
- Pathogenic
- Cardiovascular phenotype; not provided; Familial thoracic aortic aneurysm and ao
- Missense
- Variant Prioritization Score for Impact Estimate 0.915
- REVEL 0.98
- CADD 32.00
- PolyPhen-2 0.95
- SIFT 0.02
- ClinVar: Pathogenic (Cardiovascular phenotype; not provided; Familial thoracic aortic)
- EBI: Pathogenic (in AAT6)
- UniProt: Pathogenic (in AAT6)
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Cited in: Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. (PMID 17994018)
- Cited in: Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with… (PMID 19409525)