R6W (p.Arg6Trp) variant of TNFRSF4 (P43489)
R6W (p.Arg6Trp) 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 0.21 / 1. The record also includes population frequency data.
R6W (p.Arg6Trp) variant details
- p.Arg6Trp
- rs758084628
- ClinGen CA512714
- ClinVar RCV003052881
- ClinVar RCV004070209
- Uncertain significance
- Combined immunodeficiency due to OX40 deficiency; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.07
- CADD 16.40
- PolyPhen-2 0.00
- 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 South Asian population (allele frequency 9.6e-05)