M105I (p.Met105Ile) variant of TNNT2 (Troponin T, cardiac muscle)
M105I (p.Met105Ile) in TNNT2 (Troponin T, cardiac muscle) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data.
M105I (p.Met105Ile) variant details
- p.Met105Ile
- TOPMed rs1318733354
- gnomAD rs1318733354
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- CADD 23.50
- PolyPhen-2 0.21
- SIFT 0.02
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)