H8Y (p.His8Tyr) variant of TET2 (Methylcytosine dioxygenase TET2)
H8Y (p.His8Tyr) in TET2 (Methylcytosine dioxygenase TET2) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
H8Y (p.His8Tyr) variant details
- p.His8Tyr
- ESP rs147112198
- ExAC rs147112198
- TOPMed rs147112198
- gnomAD rs147112198
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.22
- MetaLR 0.26
- MetaSVM -0.68
- CADD 24.10
- PolyPhen-2 0.96
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available