R110W (p.Arg110Trp) variant of TNFRSF4 (P43489)
R110W (p.Arg110Trp) 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 0.18 / 1. The record also includes population frequency data and structural context.
R110W (p.Arg110Trp) variant details
- p.Arg110Trp
- rs756682107
- ClinGen CA512528
- ClinVar RCV003084428
- ClinVar RCV004073137
- Uncertain significance
- Combined immunodeficiency due to OX40 deficiency; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.18
- CADD 17.30
- PolyPhen-2 0.01
- SIFT 0.05
- 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 0.00015)
- Structural context available