P69L (p.Pro69Leu) variant of TNFRSF4 (P43489)
P69L (p.Pro69Leu) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data.
P69L (p.Pro69Leu) variant details
- p.Pro69Leu
- rs199733493
- ClinGen CA512624
- ClinVar RCV001207182
- ClinVar RCV004691387
- Uncertain significance
- Combined immunodeficiency due to OX40 deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.26
- CADD 16.50
- PolyPhen-2 0.63
- SIFT 0.08
- ClinVar: Uncertain significance (Combined immunodeficiency due to OX40 deficiency; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)