S39C (p.Ser39Cys) variant of TNNI3 (Troponin I, cardiac muscle)
S39C (p.Ser39Cys) in TNNI3 (Troponin I, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiomyopathy; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
S39C (p.Ser39Cys) variant details
- p.Ser39Cys
- rs2085732731
- ClinGen CA407442483
- ClinVar RCV001184655
- ClinVar RCV001876150
- Uncertain significance
- Cardiomyopathy; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.34
- MetaLR 0.81
- MetaSVM 0.56
- CADD 24.10
- PolyPhen-2 0.00
- SIFT 0.15
- ClinVar: Uncertain significance (Cardiomyopathy; Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-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)