E28Q (p.Glu28Gln) variant of TET2 (Methylcytosine dioxygenase TET2)
E28Q (p.Glu28Gln) in TET2 (Methylcytosine dioxygenase TET2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
E28Q (p.Glu28Gln) variant details
- p.Glu28Gln
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.09
- MetaLR 0.08
- MetaSVM -0.99
- CADD 23.00
- PolyPhen-2 0.07
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available