T27R (p.Thr27Arg) variant of TET2 (Methylcytosine dioxygenase TET2)
T27R (p.Thr27Arg) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
T27R (p.Thr27Arg) variant details
- p.Thr27Arg
- rs765788512
- ClinGen CA3031439
- ClinVar RCV002801603
- ClinVar RCV005288817
- Uncertain significance
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.11
- MetaLR 0.11
- MetaSVM -1.02
- CADD 23.00
- PolyPhen-2 0.55
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available