S16P (p.Ser16Pro) variant of ACTA2 (Actin, aortic smooth muscle)
S16P (p.Ser16Pro) 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 0.96 / 1. The record also includes published literature and structural context.
S16P (p.Ser16Pro) variant details
- p.Ser16Pro
- rs1554841990
- ClinGen CA377513755
- ClinVar RCV000645621
- Ensembl rs1554841990
- Likely pathogenic
- Aortic aneurysm, familial thoracic 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.963
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.00
- PolyPhen-2 1.00
- EVE 0.97
- MutPred 0.79
- 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)