A297S (p.Ala297Ser) variant of ACTC1 (Actin, alpha cardiac muscle 1)
A297S (p.Ala297Ser) in ACTC1 (Actin, alpha cardiac muscle 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Atrial septal defect 5; Dilated cardiomyopathy 1R; Hypertrophic cardiomyopathy 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes published literature and structural context.
A297S (p.Ala297Ser) variant details
- p.Ala297Ser
- rs121912675
- ClinGen CA019982
- ClinVar RCV000019990
- ClinVar RCV001380614
- Pathogenic
- Atrial septal defect 5; Dilated cardiomyopathy 1R; Hypertrophic cardiomyopathy 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- AlphaMissense 0.17
- MetaLR 0.80
- MetaSVM 0.37
- PolyPhen-2 0.00
- EVE 0.13
- MutPred 0.89
- ClinVar: Pathogenic (Atrial septal defect 5; Dilated cardiomyopathy 1R; Hypertrophic)
- EBI: Pathogenic (in CMH11)
- UniProt: Pathogenic (in CMH11)
- Structural context available
- Cited in: Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy. (PMID 10330430)
- Cited in: Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy. (PMID 10966831)