R95Q (p.Arg95Gln) variant of TNFRSF4 (P43489)
R95Q (p.Arg95Gln) in TNFRSF4 (P43489) is a missense change. Clinical records from ClinVar 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 0.09 / 1. The record also includes population frequency data.
R95Q (p.Arg95Gln) variant details
- p.Arg95Gln
- 1000Genomes rs552133296
- ExAC rs552133296
- TOPMed rs552133296
- gnomAD rs552133296
- Uncertain significance
- Combined immunodeficiency due to OX40 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.0924
- REVEL 0.11
- CADD 0.95
- PolyPhen-2 0.00
- SIFT 0.58
- ClinVar: Uncertain significance (Combined immunodeficiency due to OX40 deficiency)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5e-05)