Q59E (p.Gln59Glu) variant of TNNI3 (Troponin I, cardiac muscle)
Q59E (p.Gln59Glu) 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 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
Q59E (p.Gln59Glu) variant details
- p.Gln59Glu
- rs2085729446
- ClinGen CA407441982
- ClinVar RCV001182605
- Ensembl rs2085729446
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.20
- AlphaMissense 0.08
- MetaLR 0.24
- MetaSVM -0.50
- CADD 19.40
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)