I19T (p.Ile19Thr) variant of TET2 (Methylcytosine dioxygenase TET2)
I19T (p.Ile19Thr) in TET2 (Methylcytosine dioxygenase TET2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
I19T (p.Ile19Thr) variant details
- p.Ile19Thr
- gnomAD rs1247584944
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.03
- MetaLR 0.04
- MetaSVM -1.06
- CADD 14.10
- SIFT 0.35
- Most common in the HGDP:PALESTINIAN population (allele frequency 0.013)
- Structural context available