R314Q (p.Arg314Gln) variant of ACTA2 (Actin, aortic smooth muscle)
R314Q (p.Arg314Gln) in ACTA2 (Actin, aortic smooth muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Aortic aneurysm, familial thoracic 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
R314Q (p.Arg314Gln) variant details
- p.Arg314Gln
- rs1415888089
- ClinGen CA377510749
- NCI-TCGA Cosmic COSV5651
- ClinVar RCV000700750
- Pathogenic
- Aortic aneurysm, familial thoracic 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.889
- REVEL 0.94
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic (Aortic aneurysm, familial thoracic 6)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)