R198H (p.Arg198His) variant of ACTA2 (Actin, aortic smooth muscle)
R198H (p.Arg198His) 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 Aortic aneurysm, familial thoracic 6; Familial thoracic aortic aneurysm and aort. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes published literature and structural context.
R198H (p.Arg198His) variant details
- p.Arg198His
- rs746972765
- ClinGen CA10587711
- ClinVar RCV000645627
- ClinVar RCV000771179
- Pathogenic/Likely pathogenic
- Aortic aneurysm, familial thoracic 6; Familial thoracic aortic aneurysm and aort
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- AlphaMissense 0.98
- MetaLR 0.87
- MetaSVM 0.73
- PolyPhen-2 0.03
- EVE 0.61
- MutPred 0.92
- ClinVar: Pathogenic/Likely pathogenic (Aortic aneurysm, familial thoracic 6; Familial thoracic aortic a)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)