R7W (p.Arg7Trp) variant of TNFRSF4 (P43489)
R7W (p.Arg7Trp) in TNFRSF4 (P43489) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Combined immunodeficiency due to OX40 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data.
R7W (p.Arg7Trp) variant details
- p.Arg7Trp
- rs572497059
- ClinGen CA512711
- ClinVar RCV001992648
- ClinVar RCV004043729
- Uncertain significance
- not specified; Combined immunodeficiency due to OX40 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- REVEL 0.12
- CADD 16.90
- PolyPhen-2 0.01
- SIFT 0.04
- ClinVar: Uncertain significance (not specified; Combined immunodeficiency due to OX40 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00023)