E35K (p.Glu35Lys) variant of TNNT2 (Troponin T, cardiac muscle)
E35K (p.Glu35Lys) 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; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and published literature.
E35K (p.Glu35Lys) variant details
- p.Glu35Lys
- rs867180029
- ClinGen CA344207391
- cosmic curated COSV52665
- ClinVar RCV001051767
- Uncertain significance
- Cardiovascular phenotype; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- CADD 22.50
- PolyPhen-2 0.15
- SIFT 0.16
- ClinVar: Uncertain significance (Cardiovascular phenotype; Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- 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)