R149L (p.Arg149Leu) variant of ACTA2 (Actin, aortic smooth muscle)
R149L (p.Arg149Leu) in ACTA2 (Actin, aortic smooth muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Aortic aneurysm, familial thoracic 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature and structural context.
R149L (p.Arg149Leu) variant details
- p.Arg149Leu
- rs794728025
- ClinGen CA006944
- ClinVar RCV000181021
- ClinVar RCV003633484
- Pathogenic/Likely pathogenic
- not provided; Aortic aneurysm, familial thoracic 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- AlphaMissense 0.99
- MetaLR 0.96
- MetaSVM 1.02
- PolyPhen-2 0.03
- EVE 0.58
- MutPred 0.87
- ClinVar: Pathogenic/Likely pathogenic (not provided; Aortic aneurysm, familial thoracic 6)
- 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)