R95W (p.Arg95Trp) variant of TNFRSF4 (P43489)
R95W (p.Arg95Trp) 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 0.26 / 1. The record also includes population frequency data.
R95W (p.Arg95Trp) variant details
- p.Arg95Trp
- ExAC rs752672557
- gnomAD rs752672557
- Uncertain significance
- Combined immunodeficiency due to OX40 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.31
- CADD 16.20
- PolyPhen-2 0.60
- SIFT 0.02
- ClinVar: Uncertain significance (Combined immunodeficiency due to OX40 deficiency)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5e-05)