H45Y (p.His45Tyr) variant of TET2 (Methylcytosine dioxygenase TET2)
H45Y (p.His45Tyr) in TET2 (Methylcytosine dioxygenase TET2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
H45Y (p.His45Tyr) variant details
- p.His45Tyr
- cosmic curated COSV54433
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- REVEL 0.04
- MetaLR 0.04
- MetaSVM -1.02
- CADD 6.20
- PolyPhen-2 0.00
- SIFT 0.44
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available