Q3H (p.Gln3His) variant of TET2 (Methylcytosine dioxygenase TET2)
Q3H (p.Gln3His) in TET2 (Methylcytosine dioxygenase TET2) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
Q3H (p.Gln3His) variant details
- p.Gln3His
- 1000Genomes rs183431550
- ExAC rs183431550
- TOPMed rs183431550
- gnomAD rs183431550
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.16
- MetaLR 0.13
- MetaSVM -1.00
- CADD 23.00
- PolyPhen-2 0.86
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available