R198C (p.Arg198Cys) variant of ACTA2 (Actin, aortic smooth muscle)
R198C (p.Arg198Cys) 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 Thoracic aortic aneurysm or dissection; Familial thoracic aortic aneurysm and ao. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R198C (p.Arg198Cys) variant details
- p.Arg198Cys
- rs772862676
- ClinGen CA028754
- ClinVar RCV000421033
- ClinVar RCV000692888
- Pathogenic/Likely pathogenic
- Thoracic aortic aneurysm or dissection; Familial thoracic aortic aneurysm and ao
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- REVEL 0.92
- CADD 32.00
- PolyPhen-2 0.95
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Thoracic aortic aneurysm or dissection; Familial thoracic aortic)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- 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)