S91R (p.Ser91Arg) variant of TNFRSF4 (P43489)
S91R (p.Ser91Arg) 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 0.21 / 1. The record also includes population frequency data.
S91R (p.Ser91Arg) variant details
- p.Ser91Arg
- rs762686787
- ClinGen CA512542
- ClinVar RCV001993494
- ClinVar RCV004044631
- Uncertain significance
- not specified; Combined immunodeficiency due to OX40 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.20
- CADD 20.60
- PolyPhen-2 0.91
- SIFT 0.11
- ClinVar: Uncertain significance (not specified; Combined immunodeficiency due to OX40 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ITU population (allele frequency 0.0049)