H8N (p.His8Asn) variant of TET2 (Methylcytosine dioxygenase TET2)
H8N (p.His8Asn) 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 0.38 / 1. The record also includes population frequency data and structural context.
H8N (p.His8Asn) variant details
- p.His8Asn
- ESP rs147112198
- ExAC rs147112198
- TOPMed rs147112198
- gnomAD rs147112198
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.15
- MetaLR 0.23
- MetaSVM -0.73
- CADD 22.70
- PolyPhen-2 0.38
- SIFT 0.02
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available