T100M (p.Thr100Met) variant of TNFRSF4 (P43489)
T100M (p.Thr100Met) 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 0.58 / 1. The record also includes population frequency data.
T100M (p.Thr100Met) variant details
- p.Thr100Met
- rs762131334
- ClinGen CA512536
- ClinVar RCV001902243
- ClinVar RCV005278920
- Uncertain significance
- not specified; Combined immunodeficiency due to OX40 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- REVEL 0.53
- CADD 23.30
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Uncertain significance (not specified; Combined immunodeficiency due to OX40 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)