E14K (p.Glu14Lys) variant of TNNT2 (Troponin T, cardiac muscle)
E14K (p.Glu14Lys) 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; Hypertrophic cardiomyopathy 2; Cardiomyopathy, familia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and published literature.
E14K (p.Glu14Lys) variant details
- p.Glu14Lys
- rs772890125
- ClinGen CA028120
- ClinVar RCV000549515
- ClinVar RCV001844196
- Uncertain significance
- Cardiovascular phenotype; Hypertrophic cardiomyopathy 2; Cardiomyopathy, familia
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- CADD 21.40
- PolyPhen-2 0.29
- SIFT 0.21
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hypertrophic cardiomyopathy 2; Cardiom)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.017)
- 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)