D4H (p.Asp4His) variant of TET2 (Methylcytosine dioxygenase TET2)
D4H (p.Asp4His) in TET2 (Methylcytosine dioxygenase TET2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
D4H (p.Asp4His) variant details
- p.Asp4His
- gnomAD rs1465868048
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.20
- MetaLR 0.23
- MetaSVM -0.65
- CADD 23.50
- PolyPhen-2 0.78
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available