T32I (p.Thr32Ile) variant of TET2 (Methylcytosine dioxygenase TET2)
T32I (p.Thr32Ile) 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 0.13 / 1. The record also includes population frequency data and structural context.
T32I (p.Thr32Ile) variant details
- p.Thr32Ile
- rs150238743
- ClinGen CA3031442
- ClinVar RCV002274689
- ESP rs150238743
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- REVEL 0.03
- MetaLR 0.03
- MetaSVM -1.03
- CADD 3.96
- PolyPhen-2 0.00
- SIFT 0.29
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available