C2R (p.Cys2Arg) variant of TNFRSF4 (P43489)
C2R (p.Cys2Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data.
C2R (p.Cys2Arg) variant details
- p.Cys2Arg
- rs1206687241
- ClinGen CA337803331
- ClinVar RCV003009291
- gnomAD rs1206687241
- Uncertain significance
- Combined immunodeficiency due to OX40 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.0807
- REVEL 0.04
- CADD 11.70
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Uncertain significance (Combined immunodeficiency due to OX40 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.4e-05)