E50K (p.Glu50Lys) variant of TNNT2 (Troponin T, cardiac muscle)
E50K (p.Glu50Lys) 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 Cardiomyopathy; Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes published literature.
E50K (p.Glu50Lys) variant details
- p.Glu50Lys
- rs1660021596
- ClinGen CA344207239
- ClinVar RCV001181594
- ClinVar RCV005512928
- Uncertain significance
- Cardiomyopathy; Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- AlphaMissense 0.09
- MetaLR 0.92
- MetaSVM 1.06
- PolyPhen-2 0.48
- SIFT 0.75
- MutPred 0.16
- ClinVar: Uncertain significance (Cardiomyopathy; Hypertrophic cardiomyopathy 2; Dilated cardiomyo)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)