R39S (p.Arg39Ser) variant of ACTA2 (Actin, aortic smooth muscle)
R39S (p.Arg39Ser) 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 0.71 / 1. The record also includes published literature and structural context.
R39S (p.Arg39Ser) variant details
- p.Arg39Ser
- rs112901682
- ClinGen CA377513610
- ClinVar RCV001377371
- gnomAD rs112901682
- Likely pathogenic
- Aortic aneurysm, familial thoracic 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- AlphaMissense 0.99
- MetaLR 0.82
- MetaSVM 0.66
- PolyPhen-2 0.01
- EVE 0.52
- MutPred 0.80
- ClinVar: Likely pathogenic (Aortic aneurysm, familial thoracic 6)
- EBI: Pathogenic (in AAT6)
- UniProt: Pathogenic (in AAT6)
- 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)