E12G (p.Glu12Gly) variant of TNNT2 (Troponin T, cardiac muscle)
E12G (p.Glu12Gly) in TNNT2 (Troponin T, cardiac muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data.
E12G (p.Glu12Gly) variant details
- p.Glu12Gly
- gnomAD rs1261852554
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- CADD 33.00
- PolyPhen-2 0.54
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)