E106K (p.Glu106Lys) variant of TNNT2 (Troponin T, cardiac muscle)
E106K (p.Glu106Lys) 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 0.87 / 1. The record also includes published literature.
E106K (p.Glu106Lys) variant details
- p.Glu106Lys
- rs869312881
- ClinGen CA088557
- ClinVar RCV000210349
- ClinVar RCV001798699
- Uncertain significance
- Hypertrophic cardiomyopathy 2; Cardiomyopathy, familial restrictive, 3; Dilated
- Missense
- Variant Prioritization Score for Impact Estimate 0.87
- AlphaMissense 0.89
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.61
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 2; Cardiomyopathy, familial restrict)
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Severe familial left ventricular non-compaction cardiomyopathy due to a novel troponin T (TNNT2) mutation. (PMID 20083571)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)