N117S (p.Asn117Ser) variant of ACTA2 (Actin, aortic smooth muscle)
N117S (p.Asn117Ser) in ACTA2 (Actin, aortic smooth muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.77 / 1. The record also includes published literature and structural context.
N117S (p.Asn117Ser) variant details
- p.Asn117Ser
- rs2133261250
- ClinGen CA377512819
- ClinVar RCV001799142
- ClinVar RCV001868905
- Conflicting interpretations
- Aortic aneurysm, familial thoracic 6; Familial thoracic aortic aneurysm and aort
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- AlphaMissense 0.78
- MetaLR 0.91
- MetaSVM 1.01
- PolyPhen-2 0.01
- EVE 0.53
- MutPred 0.78
- ClinVar: Conflicting classifications of pathogenicity (Aortic aneurysm, familial thoracic 6; Familial thoracic aortic a)
- 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)