A37E (p.Ala37Glu) variant of TNNT2 (Troponin T, cardiac muscle)
A37E (p.Ala37Glu) in TNNT2 (Troponin T, cardiac muscle) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data.
A37E (p.Ala37Glu) variant details
- p.Ala37Glu
- ExAC rs776406819
- TOPMed rs776406819
- gnomAD rs776406819
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.171
- CADD 3.28
- PolyPhen-2 0.00
- SIFT 0.53
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.017)