R179C (p.Arg179Cys) variant of ACTA2 (Actin, aortic smooth muscle)
R179C (p.Arg179Cys) 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 not provided; Aortic aneurysm, familial thoracic 6; Familial aortopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
R179C (p.Arg179Cys) variant details
- p.Arg179Cys
- rs886039303
- ClinGen CA10588483
- NCI-TCGA Cosmic COSV5651
- ClinVar RCV000255555
- Pathogenic
- not provided; Aortic aneurysm, familial thoracic 6; Familial aortopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.844
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 1.00
- EVE 0.46
- MutPred 0.84
- ClinVar: Pathogenic (not provided; Aortic aneurysm, familial thoracic 6; Familial aor)
- EBI: Pathogenic (in SMDYS)
- UniProt: Pathogenic (in SMDYS)
- Structural context available
- Cited in: Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping… (PMID 27481187)
- Cited in: Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179… (PMID 29300374)