E42D (p.Glu42Asp) variant of TET2 (Methylcytosine dioxygenase TET2)
E42D (p.Glu42Asp) in TET2 (Methylcytosine dioxygenase TET2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
E42D (p.Glu42Asp) variant details
- p.Glu42Asp
- ExAC rs745818592
- gnomAD rs745818592
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.06
- MetaLR 0.08
- MetaSVM -1.02
- CADD 18.90
- PolyPhen-2 0.07
- SIFT 0.04
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available