A333P (p.Ala333Pro) variant of ACTC1 (Actin, alpha cardiac muscle 1)
A333P (p.Ala333Pro) 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 0.86 / 1. The record also includes published literature and structural context.
A333P (p.Ala333Pro) variant details
- p.Ala333Pro
- rs267606629
- ClinGen CA020027
- ClinVar RCV000019994
- ClinVar RCV001040562
- Pathogenic
- Atrial septal defect 5; Dilated cardiomyopathy 1R; Hypertrophic cardiomyopathy 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- AlphaMissense 0.99
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 0.85
- EVE 0.56
- MutPred 0.94
- ClinVar: Pathogenic (Atrial septal defect 5; Dilated cardiomyopathy 1R; Hypertrophic)
- EBI: Pathogenic (in CMH11)
- UniProt: Pathogenic (in CMH11)
- Structural context available
- Cited in: Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy. (PMID 10966831)
- Cited in: Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy. (PMID 10330430)