P46R (p.Pro46Arg) variant of TET2 (Methylcytosine dioxygenase TET2)
P46R (p.Pro46Arg) 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 provided. 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.
P46R (p.Pro46Arg) variant details
- p.Pro46Arg
- ESP rs376009634
- ExAC rs376009634
- TOPMed rs376009634
- gnomAD rs376009634
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.148
- REVEL 0.02
- MetaLR 0.04
- MetaSVM -1.04
- CADD 15.40
- PolyPhen-2 0.05
- SIFT 0.59
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available