C109G (p.Cys109Gly) variant of TNFRSF4 (P43489)
C109G (p.Cys109Gly) 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 0.48 / 1. The record also includes population frequency data.
C109G (p.Cys109Gly) variant details
- p.Cys109Gly
- rs780756664
- ClinGen CA512529
- ClinVar RCV002968084
- ClinVar RCV004065103
- Uncertain significance
- not specified; Combined immunodeficiency due to OX40 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.39
- CADD 24.10
- PolyPhen-2 0.86
- SIFT 0.00
- ClinVar: Uncertain significance (not specified; Combined immunodeficiency due to OX40 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)