L109M (p.Leu109Met) variant of TNNT2 (Troponin T, cardiac muscle)
L109M (p.Leu109Met) in TNNT2 (Troponin T, cardiac muscle) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data.
L109M (p.Leu109Met) variant details
- p.Leu109Met
- ExAC rs779857935
- gnomAD rs779857935
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- CADD 25.00
- PolyPhen-2 0.90
- SIFT 0.02
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.8e-05)