L98P (p.Leu98Pro) variant of TNFRSF4 (P43489)
L98P (p.Leu98Pro) in TNFRSF4 (P43489) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of 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.
L98P (p.Leu98Pro) variant details
- p.Leu98Pro
- rs150516264
- ClinGen CA512539
- ClinVar RCV000531541
- 1000Genomes rs150516264
- Likely benign
- Combined immunodeficiency due to OX40 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.131
- REVEL 0.18
- CADD 1.17
- PolyPhen-2 0.00
- SIFT 0.23
- ClinVar: Likely benign (Combined immunodeficiency due to OX40 deficiency)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:YRI population (allele frequency 0.017)