T113I (p.Thr113Ile) variant of TNFRSF4 (P43489)
T113I (p.Thr113Ile) in TNFRSF4 (P43489) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Combined immunodeficiency due to OX40 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
T113I (p.Thr113Ile) variant details
- p.Thr113Ile
- ExAC rs764954719
- TOPMed rs764954719
- gnomAD rs764954719
- Uncertain significance
- Combined immunodeficiency due to OX40 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.09
- CADD 15.80
- PolyPhen-2 0.12
- SIFT 0.05
- ClinVar: Uncertain significance (Combined immunodeficiency due to OX40 deficiency)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available