R179L (p.Arg179Leu) variant of ACTA2 (Actin, aortic smooth muscle)
R179L (p.Arg179Leu) 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 0.74 / 1. The record also includes published literature and structural context.
R179L (p.Arg179Leu) variant details
- p.Arg179Leu
- rs387906592
- ClinGen CA377512162
- ClinVar RCV001267897
- Ensembl rs387906592
- Pathogenic
- not provided; Aortic aneurysm, familial thoracic 6; Familial aortopathy
- 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)
- EBI: Pathogenic (in MYMY5 and SMDYS)
- UniProt: Pathogenic (in MYMY5 and SMDYS)
- Structural context available
- Cited in: Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179… (PMID 29300374)