E6D (p.Glu6Asp) variant of TNNT2 (Troponin T, cardiac muscle)
E6D (p.Glu6Asp) in TNNT2 (Troponin T, cardiac muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data.
E6D (p.Glu6Asp) variant details
- p.Glu6Asp
- TOPMed rs1660923349
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- CADD 19.60
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.8e-05)