R110Q (p.Arg110Gln) variant of TNFRSF4 (P43489)
R110Q (p.Arg110Gln) 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 0.16 / 1. The record also includes population frequency data and structural context.
R110Q (p.Arg110Gln) variant details
- p.Arg110Gln
- rs371978650
- ClinGen CA512527
- ClinVar RCV002004886
- ClinVar RCV004877723
- Uncertain significance
- Combined immunodeficiency due to OX40 deficiency; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.04
- CADD 14.40
- PolyPhen-2 0.16
- SIFT 0.15
- ClinVar: Uncertain significance (Combined immunodeficiency due to OX40 deficiency; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.045)
- Structural context available