H45D (p.His45Asp) variant of TET2 (Methylcytosine dioxygenase TET2)
H45D (p.His45Asp) in TET2 (Methylcytosine dioxygenase TET2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
H45D (p.His45Asp) variant details
- p.His45Asp
- gnomAD 4-105234075-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- REVEL 0.06
- MetaLR 0.04
- MetaSVM -1.07
- CADD 9.47
- PolyPhen-2 0.02
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available