H75N (p.His75Asn) variant of ACTA2 (Actin, aortic smooth muscle)
H75N (p.His75Asn) 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; not provided; Familial thoracic aortic ane. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes published literature and structural context.
H75N (p.His75Asn) variant details
- p.His75Asn
- rs2133269905
- ClinGen CA377513358
- ClinVar RCV001363094
- ClinVar RCV002432022
- Uncertain significance
- Aortic aneurysm, familial thoracic 6; not provided; Familial thoracic aortic ane
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- AlphaMissense 0.98
- MetaLR 0.93
- MetaSVM 1.06
- PolyPhen-2 0.04
- EVE 0.28
- MutPred 0.75
- ClinVar: Uncertain significance (Aortic aneurysm, familial thoracic 6; not provided; Familial tho)
- 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)