P80L (p.Pro80Leu) variant of TNFRSF4 (P43489)
P80L (p.Pro80Leu) 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 specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data.
P80L (p.Pro80Leu) variant details
- p.Pro80Leu
- rs757655414
- ClinGen CA512611
- ClinVar RCV001299889
- ClinVar RCV004036155
- Uncertain significance
- Combined immunodeficiency due to OX40 deficiency; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.32
- CADD 5.39
- PolyPhen-2 0.17
- SIFT 0.10
- ClinVar: Uncertain significance (Combined immunodeficiency due to OX40 deficiency; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 5e-05)