C19R (p.Cys19Arg) variant of ACTA2 (Actin, aortic smooth muscle)
C19R (p.Cys19Arg) in ACTA2 (Actin, aortic smooth muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Aortic aneurysm, familial thoracic 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
C19R (p.Cys19Arg) variant details
- p.Cys19Arg
- rs2133273980
- ClinGen CA377513737
- ClinVar RCV001362509
- Ensembl rs2133273980
- Likely pathogenic
- Aortic aneurysm, familial thoracic 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.883
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.09
- PolyPhen-2 0.43
- EVE 0.90
- MutPred 0.65
- ClinVar: Likely pathogenic (Aortic aneurysm, familial thoracic 6)
- EBI: Likely pathogenic
- UniProt: Likely 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)