R108C (p.Arg108Cys) variant of TNFRSF4 (P43489)
R108C (p.Arg108Cys) in TNFRSF4 (P43489) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Combined immunodeficiency due to OX40 deficiency; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data.
R108C (p.Arg108Cys) variant details
- p.Arg108Cys
- rs527845865
- ClinGen CA512530
- ClinVar RCV001873887
- ClinVar RCV004038964
- Uncertain significance
- Combined immunodeficiency due to OX40 deficiency; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.114
- REVEL 0.05
- CADD 14.10
- PolyPhen-2 0.31
- SIFT 0.06
- ClinVar: Uncertain significance (Combined immunodeficiency due to OX40 deficiency; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)