R179H (p.Arg179His) variant of ACTA2 (Actin, aortic smooth muscle)
R179H (p.Arg179His) 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 Multisystemic smooth muscle dysfunction syndrome; Aortic aneurysm, familial thor. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes published literature and structural context.
R179H (p.Arg179His) variant details
- p.Arg179His
- rs387906592
- ClinGen CA006970
- ClinVar RCV000022437
- ClinVar RCV000022438
- Pathogenic
- Multisystemic smooth muscle dysfunction syndrome; Aortic aneurysm, familial thor
- Missense
- Variant Prioritization Score for Impact Estimate 0.742
- AlphaMissense 0.99
- MetaLR 0.86
- MetaSVM 0.71
- PolyPhen-2 0.09
- EVE 0.55
- MutPred 0.84
- ClinVar: Pathogenic (Multisystemic smooth muscle dysfunction syndrome; Aortic aneurys)
- EBI: Pathogenic (in MYMY5 and SMDYS)
- UniProt: Pathogenic (in MYMY5 and SMDYS)
- Structural context available
- Cited in: Aortic dissection, patent ductus arteriosus, iris hypoplasia and brachytelephalangy in a male adolescent. (PMID 10532176)
- Cited in: Moyamoya angiopathy with dolichoectatic internal carotid arteries, patent ductus arteriosus and pupillary dysfunction… (PMID 14730227)