R212Q (p.Arg212Gln) variant of ACTA2 (Actin, aortic smooth muscle)
R212Q (p.Arg212Gln) 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 ACTA2-related disorder; Isolated thoracic aortic aneurysm; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
R212Q (p.Arg212Gln) variant details
- p.Arg212Gln
- rs397516685
- ClinGen CA006985
- ClinVar RCV000181024
- ClinVar RCV000211887
- Pathogenic/Likely pathogenic
- ACTA2-related disorder; Isolated thoracic aortic aneurysm; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- AlphaMissense 0.97
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 1.00
- EVE 0.48
- MutPred 0.69
- ClinVar: Pathogenic/Likely pathogenic (ACTA2-related disorder; Isolated thoracic aortic aneurysm; not p)
- 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: Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or… (PMID 19639654)