E64Q (p.Glu64Gln) variant of TNNI3 (Troponin I, cardiac muscle)
E64Q (p.Glu64Gln) 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 Hypertrophic cardiomyopathy; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes structural context.
E64Q (p.Glu64Gln) variant details
- p.Glu64Gln
- rs1245885836
- ClinGen CA407441912
- ClinVar RCV003288343
- ClinVar RCV003748483
- Uncertain significance
- Hypertrophic cardiomyopathy; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- AlphaMissense 0.30
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available