H55R (p.His55Arg) variant of TET2 (Methylcytosine dioxygenase TET2)
H55R (p.His55Arg) 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, published literature, and structural context.
H55R (p.His55Arg) variant details
- p.His55Arg
- gnomAD 4-105234106-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0973
- REVEL 0.02
- MetaLR 0.03
- MetaSVM -1.00
- CADD 2.33
- PolyPhen-2 0.00
- SIFT 0.84
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available