R39H (p.Arg39His) variant of ACTA2 (Actin, aortic smooth muscle)
R39H (p.Arg39His) 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 not provided; Familial aortopathy; Familial thoracic aortic aneurysm and aortic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes published literature and structural context.
R39H (p.Arg39His) variant details
- p.Arg39His
- rs794728021
- ClinGen CA006825
- NCI-TCGA Cosmic COSV5651
- ClinVar RCV000181015
- Pathogenic/Likely pathogenic
- not provided; Familial aortopathy; Familial thoracic aortic aneurysm and aortic
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- AlphaMissense 0.89
- MetaLR 0.84
- MetaSVM 0.85
- PolyPhen-2 0.02
- EVE 0.32
- MutPred 0.89
- ClinVar: Pathogenic/Likely pathogenic (not provided; Familial aortopathy; Familial thoracic aortic aneu)
- EBI: Pathogenic (in AAT6)
- UniProt: Pathogenic (in AAT6)
- 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: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)