S54N (p.Ser54Asn) variant of TNFRSF4 (P43489)
S54N (p.Ser54Asn) 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 0.33 / 1. The record also includes population frequency data.
S54N (p.Ser54Asn) variant details
- p.Ser54Asn
- rs1649327062
- ClinGen CA337802286
- ClinVar RCV003745117
- ClinVar RCV005291025
- Uncertain significance
- not specified; Combined immunodeficiency due to OX40 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.35
- CADD 14.90
- PolyPhen-2 0.39
- SIFT 0.15
- ClinVar: Uncertain significance (not specified; Combined immunodeficiency due to OX40 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available