I19K (p.Ile19Lys) variant of TET2 (Methylcytosine dioxygenase TET2)
I19K (p.Ile19Lys) in TET2 (Methylcytosine dioxygenase TET2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
I19K (p.Ile19Lys) variant details
- p.Ile19Lys
- gnomAD rs1247584944
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.14
- MetaLR 0.07
- MetaSVM -1.09
- CADD 19.20
- PolyPhen-2 0.19
- SIFT 0.02
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available