H90Y (p.His90Tyr) variant of ACTC1 (Actin, alpha cardiac muscle 1)
H90Y (p.His90Tyr) in ACTC1 (Actin, alpha cardiac muscle 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Dilated cardiomyopathy 1R; Atrial septal defect 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
H90Y (p.His90Tyr) variant details
- p.His90Tyr
- rs121912676
- ClinGen CA019710
- ClinVar RCV000019991
- ClinVar RCV000038323
- Conflicting interpretations
- Cardiovascular phenotype; Dilated cardiomyopathy 1R; Atrial septal defect 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- REVEL 0.87
- MetaLR 0.94
- MetaSVM 1.03
- CADD 28.50
- PolyPhen-2 0.83
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Dilated cardiomyopathy 1R; Atrial sept)
- EBI: Pathogenic (in CMH11)
- UniProt: Pathogenic (in CMH11)
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Cited in: Shared genetic causes of cardiac hypertrophy in children and adults. (PMID 18403758)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)