R258C (p.Arg258Cys) variant of ACTA2 (Actin, aortic smooth muscle)
R258C (p.Arg258Cys) 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 not provided; Familial thoracic aortic aneurysm and aortic dissection; Aortic an. 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.
R258C (p.Arg258Cys) variant details
- p.Arg258Cys
- rs121434528
- ClinGen CA007017
- ClinVar RCV000019940
- ClinVar RCV000022436
- Pathogenic
- not provided; Familial thoracic aortic aneurysm and aortic dissection; Aortic an
- Missense
- Variant Prioritization Score for Impact Estimate 0.893
- REVEL 0.93
- CADD 33.00
- PolyPhen-2 0.99
- SIFT 0.04
- ClinVar: Pathogenic (not provided; Familial thoracic aortic aneurysm and aortic disse)
- EBI: Pathogenic (in AAT6)
- UniProt: Pathogenic (in AAT6)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- 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)