E2G (p.Glu2Gly) variant of TET2 (Methylcytosine dioxygenase TET2)
E2G (p.Glu2Gly) in TET2 (Methylcytosine dioxygenase TET2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
E2G (p.Glu2Gly) variant details
- p.Glu2Gly
- gnomAD 4-105233947-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.43
- MetaLR 0.22
- MetaSVM -0.67
- CADD 29.10
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available