G68R (p.Gly68Arg) variant of TNFRSF4 (P43489)
G68R (p.Gly68Arg) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data.
G68R (p.Gly68Arg) variant details
- p.Gly68Arg
- rs139254733
- ESP rs139254733
- ExAC rs139254733
- TOPMed rs139254733
- Uncertain significance
- Combined immunodeficiency due to OX40 deficiency; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.31
- CADD 0.46
- PolyPhen-2 0.15
- SIFT 0.34
- ClinVar: Uncertain significance (Combined immunodeficiency due to OX40 deficiency; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00036)