P23R (p.Pro23Arg) variant of TET2 (Methylcytosine dioxygenase TET2)
P23R (p.Pro23Arg) 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 0.24 / 1. The record also includes population frequency data and structural context.
P23R (p.Pro23Arg) variant details
- p.Pro23Arg
- ExAC rs776833011
- TOPMed rs776833011
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.06
- MetaLR 0.07
- MetaSVM -1.05
- CADD 22.30
- PolyPhen-2 0.17
- SIFT 0.06
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available