I73V (p.Ile73Val) variant of ACTC1 (Actin, alpha cardiac muscle 1)
I73V (p.Ile73Val) 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 Cardiovascular phenotype; Cardiomyopathy; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
I73V (p.Ile73Val) variant details
- p.Ile73Val
- rs750951965
- ClinGen CA041260
- ClinVar RCV000216183
- ClinVar RCV001179800
- Uncertain significance
- Cardiovascular phenotype; Cardiomyopathy; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- REVEL 0.69
- MetaLR 0.81
- MetaSVM 0.60
- CADD 23.00
- PolyPhen-2 0.27
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype; Cardiomyopathy; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.8e-05)
- 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)