N94S (p.Asn94Ser) variant of ACTA2 (Actin, aortic smooth muscle)
N94S (p.Asn94Ser) 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 not provided; Aortic aneurysm, familial thoracic 6; Familial thoracic aortic ane. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
N94S (p.Asn94Ser) variant details
- p.Asn94Ser
- rs756569259
- ClinGen CA027309
- ClinVar RCV001524653
- ClinVar RCV005648154
- Uncertain significance
- not provided; Aortic aneurysm, familial thoracic 6; Familial thoracic aortic ane
- Missense
- Variant Prioritization Score for Impact Estimate 0.743
- REVEL 0.77
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.04
- ClinVar: Uncertain significance (not provided; Aortic aneurysm, familial thoracic 6; Familial tho)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- 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)