Y102H (p.Tyr102His) variant of TNFRSF13B (O14836)
Y102H (p.Tyr102His) in TNFRSF13B (O14836) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency, common variable, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data.
Y102H (p.Tyr102His) variant details
- p.Tyr102His
- rs767933010
- ClinGen CA398520034
- ClinVar RCV001305651
- ExAC rs767933010
- Uncertain significance
- Immunodeficiency, common variable, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.27
- CADD 4.05
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)