I100M (p.Ile100Met) variant of TNNT2 (Troponin T, cardiac muscle)
I100M (p.Ile100Met) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes published literature.
I100M (p.Ile100Met) variant details
- p.Ile100Met
- rs1230932782
- ClinGen CA344206596
- ClinVar RCV001171167
- gnomAD rs1230932782
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- AlphaMissense 0.52
- MetaLR 0.96
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.58
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Likely benign
- UniProt: Likely benign
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)