E40K (p.Glu40Lys) variant of TNNT2 (Troponin T, cardiac muscle)
E40K (p.Glu40Lys) 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 Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3; Hypertrophic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes published literature.
E40K (p.Glu40Lys) variant details
- p.Glu40Lys
- rs2102283637
- ClinGen CA344207345
- ClinVar RCV001916113
- Ensembl rs2102283637
- Uncertain significance
- Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3; Hypertrophic
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- AlphaMissense 0.09
- MetaLR 0.89
- MetaSVM 0.94
- PolyPhen-2 0.04
- SIFT 0.10
- MutPred 0.25
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive,)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)