R65C (p.Arg65Cys) variant of TNFRSF4 (P43489)
R65C (p.Arg65Cys) in TNFRSF4 (P43489) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as no classifications from unflagged records in the context of Combined immunodeficiency due to OX40 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and published literature.
R65C (p.Arg65Cys) variant details
- p.Arg65Cys
- rs587777075
- ClinGen CA149686
- ClinVar RCV000082860
- UniProt VAR 070942
- no classifications from unflagged records
- Combined immunodeficiency due to OX40 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.12
- CADD 16.50
- PolyPhen-2 0.44
- SIFT 0.09
- ClinVar: no classifications from unflagged records (Combined immunodeficiency due to OX40 deficiency)
- EBI: Pathogenic (in IMD16)
- UniProt: Pathogenic (in IMD16)
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Cited in: Inherited human OX40 deficiency underlying classic Kaposi sarcoma of childhood. (PMID 23897980)