E93D (p.Glu93Asp) variant of TNNT2 (Troponin T, cardiac muscle)
E93D (p.Glu93Asp) in TNNT2 (Troponin T, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Dilated cardiomyopathy 1D; Cardiomyopathy, familial re. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
E93D (p.Glu93Asp) variant details
- p.Glu93Asp
- rs727503514
- ClinGen CA004209
- ClinVar RCV000152107
- ClinVar RCV003298160
- Uncertain significance
- Cardiovascular phenotype; Dilated cardiomyopathy 1D; Cardiomyopathy, familial re
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- CADD 17.40
- PolyPhen-2 0.18
- SIFT 0.15
- ClinVar: Uncertain significance (Cardiovascular phenotype; Dilated cardiomyopathy 1D; Cardiomyopa)
- EBI: Likely benign
- UniProt: Likely benign
- 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)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)