E47K (p.Glu47Lys) variant of TET2 (Methylcytosine dioxygenase TET2)
E47K (p.Glu47Lys) in TET2 (Methylcytosine dioxygenase TET2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
E47K (p.Glu47Lys) variant details
- p.Glu47Lys
- gnomAD 4-105234081-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.19
- MetaLR 0.12
- MetaSVM -0.91
- CADD 23.20
- PolyPhen-2 0.44
- SIFT 0.01
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available