C2W (p.Cys2Trp) variant of TNFRSF4 (P43489)
C2W (p.Cys2Trp) 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 0.19 / 1. The record also includes population frequency data.
C2W (p.Cys2Trp) variant details
- p.Cys2Trp
- rs202161001
- ClinGen CA337803303
- ClinVar RCV001962229
- ClinVar RCV004681274
- Uncertain significance
- not specified; Combined immunodeficiency due to OX40 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.20
- CADD 15.40
- PolyPhen-2 0.62
- SIFT 0.00
- ClinVar: Uncertain significance (not specified; Combined immunodeficiency due to OX40 deficiency)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.6e-05)