I19L (p.Ile19Leu) variant of TET2 (Methylcytosine dioxygenase TET2)
I19L (p.Ile19Leu) in TET2 (Methylcytosine dioxygenase TET2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
I19L (p.Ile19Leu) variant details
- p.Ile19Leu
- TOPMed rs1286727147
- gnomAD rs1286727147
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.07
- MetaLR 0.05
- MetaSVM -1.04
- CADD 17.60
- SIFT 0.07
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available