E60G (p.Glu60Gly) variant of TNNI3 (Troponin I, cardiac muscle)
E60G (p.Glu60Gly) in TNNI3 (Troponin I, 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 0.65 / 1. The record also includes published literature and structural context.
E60G (p.Glu60Gly) variant details
- p.Glu60Gly
- rs2085729410
- ClinGen CA407441961
- ClinVar RCV001189077
- Ensembl rs2085729410
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- AlphaMissense 0.28
- MetaLR 0.87
- MetaSVM 0.82
- PolyPhen-2 1.00
- SIFT 0.20
- EVE 0.18
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)