K33E (p.Lys33Glu) variant of TET2 (Methylcytosine dioxygenase TET2)
K33E (p.Lys33Glu) 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 0.29 / 1. The record also includes population frequency data and structural context.
K33E (p.Lys33Glu) variant details
- p.Lys33Glu
- TOPMed rs1728672951
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.15
- MetaLR 0.14
- MetaSVM -0.74
- CADD 24.10
- PolyPhen-2 0.54
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available