V9L (p.Val9Leu) variant of TET2 (Methylcytosine dioxygenase TET2)
V9L (p.Val9Leu) in TET2 (Methylcytosine dioxygenase TET2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
V9L (p.Val9Leu) variant details
- p.Val9Leu
- gnomAD 4-105233919-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- CADD 17.40
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available