V56I (p.Val56Ile) variant of ACTC1 (Actin, alpha cardiac muscle 1)
V56I (p.Val56Ile) in ACTC1 (Actin, alpha cardiac muscle 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Primary dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
V56I (p.Val56Ile) variant details
- p.Val56Ile
- rs944740404
- ClinGen CA268663502
- NCI-TCGA Cosmic COSV5175
- ClinVar RCV001178519
- Uncertain significance
- Primary dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- REVEL 0.59
- MetaLR 0.83
- MetaSVM 0.70
- CADD 22.80
- PolyPhen-2 0.41
- SIFT 0.01
- ClinVar: Uncertain significance (Primary dilated cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)