E47E (p.Glu47Glu) variant of TET2 (Methylcytosine dioxygenase TET2)
E47E (p.Glu47Glu) in TET2 (Methylcytosine dioxygenase TET2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
E47E (p.Glu47Glu) variant details
- p.Glu47Glu
- gnomAD 4-105234083-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.318
- CADD 7.22
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available