H55P (p.His55Pro) variant of TET2 (Methylcytosine dioxygenase TET2)
H55P (p.His55Pro) 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 0.10 / 1. The record also includes population frequency data and structural context.
H55P (p.His55Pro) variant details
- p.His55Pro
- ExAC rs781497651
- TOPMed rs781497651
- gnomAD rs781497651
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0989
- REVEL 0.02
- MetaLR 0.03
- MetaSVM -1.04
- CADD 5.23
- PolyPhen-2 0.00
- SIFT 0.26
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available