C104Y (p.Cys104Tyr) variant of TNFRSF13B (O14836)
C104Y (p.Cys104Tyr) in TNFRSF13B (O14836) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of TNFRSF13B-related disorder; Immunodeficiency, common variable, 2; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
C104Y (p.Cys104Tyr) variant details
- p.Cys104Tyr
- rs72553879
- ClinGen CA8414040
- ClinVar RCV000799248
- ClinVar RCV002283512
- Pathogenic/Likely pathogenic
- TNFRSF13B-related disorder; Immunodeficiency, common variable, 2; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- REVEL 0.88
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (TNFRSF13B-related disorder; Immunodeficiency, common variable, 2)
- EBI: Pathogenic (in CVID2 and IGAD2)
- UniProt: Pathogenic (in CVID2 and IGAD2)
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available