H45R (p.His45Arg) variant of TET2 (Methylcytosine dioxygenase TET2)
H45R (p.His45Arg) in TET2 (Methylcytosine dioxygenase TET2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
H45R (p.His45Arg) variant details
- p.His45Arg
- gnomAD rs1728675742
- Missense
- Variant Prioritization Score for Impact Estimate 0.103
- REVEL 0.06
- MetaLR 0.04
- MetaSVM -1.03
- CADD 6.17
- SIFT 0.04
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available