E35A (p.Glu35Ala) variant of TNNT2 (Troponin T, cardiac muscle)
E35A (p.Glu35Ala) 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 0.43 / 1. The record also includes population frequency data.
E35A (p.Glu35Ala) variant details
- p.Glu35Ala
- TOPMed rs1251341467
- gnomAD rs1251341467
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- CADD 22.30
- PolyPhen-2 0.06
- SIFT 0.33
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.93)