E60D (p.Glu60Asp) variant of TNNT2 (Troponin T, cardiac muscle)
E60D (p.Glu60Asp) in TNNT2 (Troponin T, cardiac muscle) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Dilated cardiomyopathy 1D; Hypertrophic cardiomyopathy 2; Cardiomyopathy, famili. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data.
E60D (p.Glu60Asp) variant details
- p.Glu60Asp
- ExAC rs774064875
- Uncertain significance
- Dilated cardiomyopathy 1D; Hypertrophic cardiomyopathy 2; Cardiomyopathy, famili
- Missense
- Variant Prioritization Score for Impact Estimate 0.153
- CADD 13.30
- PolyPhen-2 0.00
- SIFT 0.07
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1D; Hypertrophic cardiomyopathy 2; Cardio)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00044)