R6Q (p.Arg6Gln) variant of TNFRSF4 (P43489)
R6Q (p.Arg6Gln) in TNFRSF4 (P43489) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of not specified; Combined immunodeficiency due to OX40 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data.
R6Q (p.Arg6Gln) variant details
- p.Arg6Gln
- TOPMed rs1020653313
- gnomAD rs1020653313
- Conflicting interpretations
- not specified; Combined immunodeficiency due to OX40 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.0606
- REVEL 0.05
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.81
- ClinVar: Conflicting classifications of pathogenicity (not specified; Combined immunodeficiency due to OX40 deficiency)
- UniProt: Conflicting interpretations
- Most common in the African/African-American population (allele frequency 7.2e-05)