V106F (p.Val106Phe) variant of TNFRSF4 (P43489)
V106F (p.Val106Phe) 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 0.35 / 1. The record also includes population frequency data.
V106F (p.Val106Phe) variant details
- p.Val106Phe
- ExAC rs745432631
- TOPMed rs745432631
- Uncertain significance
- Combined immunodeficiency due to OX40 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.46
- CADD 17.40
- PolyPhen-2 0.78
- SIFT 0.00
- ClinVar: Uncertain significance (Combined immunodeficiency due to OX40 deficiency)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)