T85A (p.Thr85Ala) variant of TNFRSF4 (P43489)
T85A (p.Thr85Ala) 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 0.46 / 1. The record also includes population frequency data.
T85A (p.Thr85Ala) variant details
- p.Thr85Ala
- rs367654407
- ClinGen CA512608
- ClinVar RCV001881418
- ClinVar RCV004041386
- Uncertain significance
- not specified; Combined immunodeficiency due to OX40 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.46
- CADD 24.70
- PolyPhen-2 0.97
- 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 South Asian population (allele frequency 0.00021)