R9W (p.Arg9Trp) variant of TNFRSF13C (Q96RJ3)
R9W (p.Arg9Trp) in TNFRSF13C (Q96RJ3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency, common variable, 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data.
R9W (p.Arg9Trp) variant details
- p.Arg9Trp
- rs1161872026
- ClinGen CA411763902
- ClinVar RCV003611832
- gnomAD rs1161872026
- Uncertain significance
- Immunodeficiency, common variable, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.09
- AlphaMissense 0.07
- MetaLR 0.21
- MetaSVM -0.88
- CADD 16.50
- PolyPhen-2 0.01
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)