S38I (p.Ser38Ile) variant of TET2 (Methylcytosine dioxygenase TET2)
S38I (p.Ser38Ile) in TET2 (Methylcytosine dioxygenase TET2) is a missense change. Clinical records from ClinVar, EBI, 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 0.34 / 1. The record also includes structural context.
S38I (p.Ser38Ile) variant details
- p.Ser38Ile
- rs2110219622
- ClinGen CA357790450
- ClinVar RCV002807122
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- AlphaMissense 0.14
- MetaLR 0.09
- MetaSVM -1.00
- PolyPhen-2 0.87
- SIFT 0.01
- MutPred 0.20
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available