I19L (p.Ile19Leu) variant of TNNI3 (Troponin I, cardiac muscle)
I19L (p.Ile19Leu) 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; Cardiovascular phenotype; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
I19L (p.Ile19Leu) variant details
- p.Ile19Leu
- rs755862334
- ClinGen CA407443121
- ClinVar RCV001804613
- ClinVar RCV002343868
- Uncertain significance
- Cardiomyopathy; Cardiovascular phenotype; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.26
- MetaLR 0.22
- MetaSVM -0.93
- CADD 1.38
- PolyPhen-2 0.00
- SIFT 0.94
- ClinVar: Uncertain significance (Cardiomyopathy; Cardiovascular phenotype; Hypertrophic cardiomyo)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 3.4e-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)