L14V (p.Leu14Val) variant of TET2 (Methylcytosine dioxygenase TET2)
L14V (p.Leu14Val) in TET2 (Methylcytosine dioxygenase TET2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
L14V (p.Leu14Val) variant details
- p.Leu14Val
- gnomAD 4-105233982-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.15
- MetaLR 0.15
- MetaSVM -0.98
- CADD 23.50
- PolyPhen-2 0.84
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available