P22S (p.Pro22Ser) variant of TET2 (Methylcytosine dioxygenase TET2)
P22S (p.Pro22Ser) 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 0.12 / 1. The record also includes population frequency data and structural context.
P22S (p.Pro22Ser) variant details
- p.Pro22Ser
- cosmic curated COSV10808
- TOPMed rs1728670474
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.115
- REVEL 0.03
- MetaLR 0.04
- MetaSVM -1.01
- CADD 5.78
- PolyPhen-2 0.01
- SIFT 0.35
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available