T85M (p.Thr85Met) variant of TNFRSF4 (P43489)
T85M (p.Thr85Met) 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 0.65 / 1. The record also includes population frequency data.
T85M (p.Thr85Met) variant details
- p.Thr85Met
- rs758841991
- ClinGen CA512607
- ClinVar RCV003583804
- ClinVar RCV004369383
- Uncertain significance
- not specified; Combined immunodeficiency due to OX40 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- REVEL 0.57
- CADD 24.30
- PolyPhen-2 1.00
- 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 African/African-American population (allele frequency 0.00012)