E9Q (p.Glu9Gln) variant of TNNT2 (Troponin T, cardiac muscle)
E9Q (p.Glu9Gln) 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 0.57 / 1. The record also includes population frequency data.
E9Q (p.Glu9Gln) variant details
- p.Glu9Gln
- TOPMed rs1202003575
- gnomAD rs1202003575
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- CADD 22.10
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5e-05)