D40N (p.Asp40Asn) variant of TNFRSF4 (P43489)
D40N (p.Asp40Asn) 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 0.14 / 1. The record also includes population frequency data and structural context.
D40N (p.Asp40Asn) variant details
- p.Asp40Asn
- ESP rs368954253
- ExAC rs368954253
- TOPMed rs368954253
- gnomAD rs368954253
- Uncertain significance
- Combined immunodeficiency due to OX40 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.139
- REVEL 0.19
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.88
- ClinVar: Uncertain significance (Combined immunodeficiency due to OX40 deficiency)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available