E10D (p.Glu10Asp) variant of TET2 (Methylcytosine dioxygenase TET2)
E10D (p.Glu10Asp) in TET2 (Methylcytosine dioxygenase TET2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
E10D (p.Glu10Asp) variant details
- p.Glu10Asp
- rs762224280
- gnomAD 4-105233909-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- CADD 17.80
- SIFT 0.05
- Most common in the South Asian population (allele frequency 6.2e-05)
- Structural context available
- Literature evidence available