E182K (p.Glu182Lys) variant of TNNI3 (Troponin I, cardiac muscle)
E182K (p.Glu182Lys) in TNNI3 (Troponin I, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Cardiomyopathy; Dilated cardiomyopathy 1FF. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
E182K (p.Glu182Lys) variant details
- p.Glu182Lys
- rs397516355
- ClinGen CA021848
- ClinVar RCV000036303
- ClinVar RCV000159235
- Pathogenic/Likely pathogenic
- not provided; Cardiomyopathy; Dilated cardiomyopathy 1FF
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.32
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.24
- ClinVar: Pathogenic/Likely pathogenic (not provided; Cardiomyopathy; Dilated cardiomyopathy 1FF)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- 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: Cardiomyopathy, familial dilated. (PMID 16839424)