R58G (p.Arg58Gly) variant of TNFRSF4 (P43489)
R58G (p.Arg58Gly) 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 0.13 / 1. The record also includes population frequency data and structural context.
R58G (p.Arg58Gly) variant details
- p.Arg58Gly
- ExAC rs780860323
- gnomAD rs780860323
- Uncertain significance
- not specified; Combined immunodeficiency due to OX40 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.126
- REVEL 0.17
- CADD 0.07
- PolyPhen-2 0.00
- SIFT 0.47
- ClinVar: Uncertain significance (not specified; Combined immunodeficiency due to OX40 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available