T32S (p.Thr32Ser) variant of TET2 (Methylcytosine dioxygenase TET2)
T32S (p.Thr32Ser) 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.
T32S (p.Thr32Ser) variant details
- p.Thr32Ser
- Ensembl rs2110219561
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.122
- REVEL 0.13
- MetaLR 0.03
- MetaSVM -1.02
- CADD 1.14
- PolyPhen-2 0.01
- SIFT 0.07
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available