E35V (p.Glu35Val) variant of TNNT2 (Troponin T, cardiac muscle)
E35V (p.Glu35Val) 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; Dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and published literature.
E35V (p.Glu35Val) variant details
- p.Glu35Val
- rs1251341467
- ClinGen CA344207387
- ClinVar RCV002391605
- ClinVar RCV003103409
- Uncertain significance
- Cardiovascular phenotype; Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- CADD 23.20
- PolyPhen-2 0.35
- SIFT 0.08
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hypertrophic cardiomyopathy 2; Dilated)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- 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)