E60Q (p.Glu60Gln) variant of TNNI3 (Troponin I, cardiac muscle)
E60Q (p.Glu60Gln) 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 Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
E60Q (p.Glu60Gln) variant details
- p.Glu60Gln
- ExAC rs776162352
- gnomAD rs776162352
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- REVEL 0.66
- MetaLR 0.89
- MetaSVM 0.90
- CADD 24.00
- PolyPhen-2 0.98
- SIFT 0.18
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available