E61K (p.Glu61Lys) variant of TNNT2 (Troponin T, cardiac muscle)
E61K (p.Glu61Lys) 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 0.59 / 1. The record also includes published literature.
E61K (p.Glu61Lys) variant details
- p.Glu61Lys
- rs1659921532
- ClinGen CA344207021
- ClinVar RCV004012485
- ClinVar RCV005216183
- Uncertain significance
- Cardiomyopathy; Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- AlphaMissense 0.08
- MetaLR 0.93
- MetaSVM 0.58
- PolyPhen-2 0.01
- SIFT 0.18
- EVE 0.24
- 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)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)