Y93C (p.Tyr93Cys) variant of ACTC1 (Actin, alpha cardiac muscle 1)
Y93C (p.Tyr93Cys) 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 Cardiomyopathy; Hypertrophic cardiomyopathy 11; Cardiovascular phenotype. 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.
Y93C (p.Tyr93Cys) variant details
- p.Tyr93Cys
- rs1595761404
- ClinGen CA391631596
- NCI-TCGA Cosmic COSV5175
- ClinVar RCV001184876
- Uncertain significance
- Cardiomyopathy; Hypertrophic cardiomyopathy 11; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- REVEL 0.95
- MetaLR 0.94
- MetaSVM 1.10
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiomyopathy; Hypertrophic cardiomyopathy 11; Cardiovascular p)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- 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: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)