R118W (p.Arg118Trp) variant of ACTA2 (Actin, aortic smooth muscle)
R118W (p.Arg118Trp) in ACTA2 (Actin, aortic smooth muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
R118W (p.Arg118Trp) variant details
- p.Arg118Trp
- rs1845899655
- ClinGen CA377512814
- ClinVar RCV001362418
- ClinVar RCV001806146
- Conflicting interpretations
- Aortic aneurysm, familial thoracic 6; not provided; Familial thoracic aortic ane
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- REVEL 0.85
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Aortic aneurysm, familial thoracic 6; not provided; Familial tho)
- EBI: Likely pathogenic (in AAT6)
- UniProt: Likely pathogenic (in AAT6)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)