G51R (p.Gly51Arg) variant of TNFRSF4 (P43489)
G51R (p.Gly51Arg) 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 0.27 / 1. The record also includes population frequency data.
G51R (p.Gly51Arg) variant details
- p.Gly51Arg
- ExAC rs775248751
- TOPMed rs775248751
- gnomAD rs775248751
- Uncertain significance
- Combined immunodeficiency due to OX40 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.23
- CADD 14.30
- PolyPhen-2 0.87
- SIFT 0.55
- ClinVar: Uncertain significance (Combined immunodeficiency due to OX40 deficiency)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)