E42* (p.Glu42Ter) variant of TET2 (Methylcytosine dioxygenase TET2)
E42* (p.Glu42Ter) in TET2 (Methylcytosine dioxygenase TET2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
E42* (p.Glu42Ter) variant details
- p.Glu42Ter
- gnomAD 4-105234066-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.448
- CADD 35.00
- Population evidence available
- Structural context available
- Literature evidence available