E59K (p.Glu59Lys) variant of TNNT2 (Troponin T, cardiac muscle)
E59K (p.Glu59Lys) 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 Hypertrophic cardiomyopathy 2; Cardiomyopathy, familial restrictive, 3; Dilated. 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.
E59K (p.Glu59Lys) variant details
- p.Glu59Lys
- rs568628521
- ClinGen CA344207048
- ClinVar RCV000768725
- ClinVar RCV001869063
- Uncertain significance
- Hypertrophic cardiomyopathy 2; Cardiomyopathy, familial restrictive, 3; Dilated
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- AlphaMissense 0.07
- MetaLR 0.93
- MetaSVM 0.99
- PolyPhen-2 0.08
- SIFT 0.06
- EVE 0.41
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 2; Cardiomyopathy, familial restrict)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence 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)