R30W (p.Arg30Trp) variant of ACTA2 (Actin, aortic smooth muscle)
R30W (p.Arg30Trp) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
R30W (p.Arg30Trp) variant details
- p.Arg30Trp
- rs1564647905
- ClinGen CA377513666
- ClinVar RCV000690957
- Ensembl rs1564647905
- Uncertain significance
- Aortic aneurysm, familial thoracic 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.928
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.05
- PolyPhen-2 0.91
- EVE 0.90
- MutPred 0.75
- ClinVar: Uncertain significance (Aortic aneurysm, familial thoracic 6)
- EBI: Likely benign
- UniProt: Likely benign
- 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)