W54* (p.Trp54Ter) variant of TET2 (Methylcytosine dioxygenase TET2)
W54* (p.Trp54Ter) in TET2 (Methylcytosine dioxygenase TET2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
W54* (p.Trp54Ter) variant details
- p.Trp54Ter
- cosmic curated COSV10583
- TOPMed rs1728676794
- gnomAD rs1728676794
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.531
- CADD 35.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available