H55Q (p.His55Gln) variant of TET2 (Methylcytosine dioxygenase TET2)
H55Q (p.His55Gln) in TET2 (Methylcytosine dioxygenase TET2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
H55Q (p.His55Gln) variant details
- p.His55Gln
- ExAC rs748418305
- gnomAD rs748418305
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.03
- MetaLR 0.02
- MetaSVM -0.96
- CADD 0.73
- PolyPhen-2 0.00
- SIFT 0.66
- Most common in the South Asian population (allele frequency 0.00012)
- Structural context available