A38E (p.Ala38Glu) variant of TNNT2 (Troponin T, cardiac muscle)
A38E (p.Ala38Glu) in TNNT2 (Troponin T, cardiac muscle) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in CMH2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data.
A38E (p.Ala38Glu) variant details
- p.Ala38Glu
- 1000Genomes rs200754249
- ESP rs200754249
- ExAC rs200754249
- TOPMed rs200754249
- Pathogenic
- in CMH2
- Missense
- Variant Prioritization Score for Impact Estimate 0.0899
- CADD 4.61
- PolyPhen-2 0.00
- SIFT 0.22
- EBI: Pathogenic (in CMH2)
- UniProt: Pathogenic (in CMH2)
- Most common in the REMAINING population (allele frequency 1.7e-05)