C89Y (p.Cys89Tyr) variant of TNFRSF13B (O14836)
C89Y (p.Cys89Tyr) in TNFRSF13B (O14836) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Immunodeficiency, common variable, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
C89Y (p.Cys89Tyr) variant details
- p.Cys89Tyr
- rs746779126
- ClinGen CA8414056
- ClinVar RCV002263080
- ClinVar RCV003101483
- Uncertain significance
- not provided; Immunodeficiency, common variable, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- REVEL 0.80
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Immunodeficiency, common variable, 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available