R118Q (p.Arg118Gln) variant of ACTA2 (Actin, aortic smooth muscle)
R118Q (p.Arg118Gln) 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 Aortic aneurysm, familial thoracic 6; Multisystemic smooth muscle dysfunction sy. 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.
R118Q (p.Arg118Gln) variant details
- p.Arg118Gln
- rs112602953
- ClinGen CA006909
- NCI-TCGA Cosmic COSV5651
- ClinVar RCV000181019
- Pathogenic/Likely pathogenic
- Aortic aneurysm, familial thoracic 6; Multisystemic smooth muscle dysfunction sy
- Missense
- Variant Prioritization Score for Impact Estimate 0.886
- REVEL 0.94
- CADD 29.30
- PolyPhen-2 0.96
- SIFT 0.03
- ClinVar: Pathogenic/Likely pathogenic (Aortic aneurysm, familial thoracic 6; Multisystemic smooth muscl)
- EBI: Pathogenic (in AAT6)
- UniProt: Pathogenic (in AAT6)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. (PMID 17994018)
- Cited in: Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with… (PMID 19409525)