I4M (p.Ile4Met) variant of TNNT2 (Troponin T, cardiac muscle)
I4M (p.Ile4Met) 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 Cardiovascular phenotype; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes published literature.
I4M (p.Ile4Met) variant details
- p.Ile4Met
- rs2102317005
- ClinGen CA344209074
- ClinVar RCV004015904
- ClinVar RCV006373194
- Uncertain significance
- Cardiovascular phenotype; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- AlphaMissense 0.08
- MetaLR 0.89
- MetaSVM 0.94
- SIFT 0.02
- ClinVar: Uncertain significance (Cardiovascular phenotype; Cardiomyopathy)
- 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)