A126D (p.Ala126Asp) variant of TNFRSF4 (P43489)
A126D (p.Ala126Asp) 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 0.22 / 1. The record also includes population frequency data.
A126D (p.Ala126Asp) variant details
- p.Ala126Asp
- TOPMed rs1649223718
- Uncertain significance
- Combined immunodeficiency due to OX40 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.07
- CADD 6.67
- PolyPhen-2 0.18
- SIFT 0.18
- ClinVar: Uncertain significance (Combined immunodeficiency due to OX40 deficiency)
- UniProt: Uncertain significance
- Population evidence available