R39C (p.Arg39Cys) variant of ACTA2 (Actin, aortic smooth muscle)
R39C (p.Arg39Cys) in ACTA2 (Actin, aortic smooth muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Thoracic aortic aneurysm or dissection; Aortic aneurysm, familial thoracic 6; Mu. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R39C (p.Arg39Cys) variant details
- p.Arg39Cys
- rs112901682
- ClinGen CA006817
- NCI-TCGA Cosmic COSV5651
- ClinVar RCV000055647
- Pathogenic/Likely pathogenic
- Thoracic aortic aneurysm or dissection; Aortic aneurysm, familial thoracic 6; Mu
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- REVEL 0.85
- AlphaMissense 0.99
- MetaLR 0.82
- MetaSVM 0.66
- CADD 24.80
- PolyPhen-2 0.01
- ClinVar: Pathogenic/Likely pathogenic (Thoracic aortic aneurysm or dissection; Aortic aneurysm, familia)
- EBI: Pathogenic (in AAT6)
- UniProt: Pathogenic (in AAT6)
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available
- Cited in: Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with… (PMID 19409525)
- Cited in: Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections. (PMID 21248741)