E28A (p.Glu28Ala) variant of TET2 (Methylcytosine dioxygenase TET2)
E28A (p.Glu28Ala) in TET2 (Methylcytosine dioxygenase TET2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
E28A (p.Glu28Ala) variant details
- p.Glu28Ala
- ExAC rs773884315
- TOPMed rs773884315
- gnomAD rs773884315
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.08
- MetaLR 0.10
- MetaSVM -0.99
- CADD 22.90
- PolyPhen-2 0.27
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available