R55C (p.Arg55Cys) variant of TNFRSF4 (P43489)
R55C (p.Arg55Cys) 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 0.70 / 1. The record also includes population frequency data.
R55C (p.Arg55Cys) variant details
- p.Arg55Cys
- rs769325973
- ClinGen CA512639
- ClinVar RCV001982154
- ClinVar RCV004042078
- Uncertain significance
- Combined immunodeficiency due to OX40 deficiency; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- REVEL 0.72
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (Combined immunodeficiency due to OX40 deficiency; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00096)