D51E (p.Asp51Glu) variant of TET2 (Methylcytosine dioxygenase TET2)
D51E (p.Asp51Glu) in TET2 (Methylcytosine dioxygenase TET2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
D51E (p.Asp51Glu) variant details
- p.Asp51Glu
- ExAC rs768741227
- TOPMed rs768741227
- gnomAD rs768741227
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.03
- MetaLR 0.05
- MetaSVM -1.05
- CADD 6.82
- PolyPhen-2 0.02
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available