D117E (p.Asp117Glu) variant of TNFRSF4 (P43489)
D117E (p.Asp117Glu) in TNFRSF4 (P43489) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Combined immunodeficiency due to OX40 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data.
D117E (p.Asp117Glu) variant details
- p.Asp117Glu
- ESP rs146733335
- ExAC rs146733335
- TOPMed rs146733335
- gnomAD rs146733335
- Uncertain significance
- Combined immunodeficiency due to OX40 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.0406
- REVEL 0.02
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.68
- ClinVar: Uncertain significance (Combined immunodeficiency due to OX40 deficiency)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)