N113S (p.Asn113Ser) variant of ACTA2 (Actin, aortic smooth muscle)
N113S (p.Asn113Ser) in ACTA2 (Actin, aortic smooth muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Aortic aneurysm, familial thoracic 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature and structural context.
N113S (p.Asn113Ser) variant details
- p.Asn113Ser
- rs397516680
- ClinGen CA377512845
- ClinVar RCV001795827
- Ensembl rs397516680
- Uncertain significance
- Aortic aneurysm, familial thoracic 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.797
- AlphaMissense 0.91
- MetaLR 0.86
- MetaSVM 0.93
- PolyPhen-2 0.15
- EVE 0.64
- MutPred 0.83
- ClinVar: Uncertain significance (Aortic aneurysm, familial thoracic 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)