R149H (p.Arg149His) variant of ACTA2 (Actin, aortic smooth muscle)
R149H (p.Arg149His) 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; Familial thoracic aortic aneurysm and aort. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
R149H (p.Arg149His) variant details
- p.Arg149His
- rs794728025
- ClinGen CA377512414
- ClinVar RCV001210167
- ClinVar RCV002314196
- Uncertain significance
- Aortic aneurysm, familial thoracic 6; Familial thoracic aortic aneurysm and aort
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- REVEL 0.86
- AlphaMissense 0.99
- MetaLR 0.96
- MetaSVM 1.02
- CADD 24.70
- PolyPhen-2 0.03
- ClinVar: Uncertain significance (Aortic aneurysm, familial thoracic 6; Familial thoracic aortic a)
- EBI: Pathogenic (in AAT6)
- UniProt: Pathogenic (in AAT6)
- Most common in the REMAINING population (allele frequency 0.00048)
- 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)