E111D (p.Glu111Asp) variant of TNNT2 (Troponin T, cardiac muscle)
E111D (p.Glu111Asp) 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; Dilated cardiomyopathy 1D; Cardiomyopathy, famili. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature.
E111D (p.Glu111Asp) variant details
- p.Glu111Asp
- rs1659441464
- ClinGen CA344206462
- ClinVar RCV001318555
- ClinVar RCV001751548
- Uncertain significance
- Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, famili
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- AlphaMissense 0.75
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 0.74
- SIFT 0.04
- EVE 0.54
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardio)
- 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)