L18L (p.Leu18Leu) variant of TET2 (Methylcytosine dioxygenase TET2)
L18L (p.Leu18Leu) in TET2 (Methylcytosine dioxygenase TET2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
L18L (p.Leu18Leu) variant details
- p.Leu18Leu
- rs1391966054
- gnomAD 4-105233942-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.544
- CADD 18.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available