P5H (p.Pro5His) variant of TNFRSF13C (Q96RJ3)
P5H (p.Pro5His) 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 0.24 / 1. The record also includes population frequency data.
P5H (p.Pro5His) variant details
- p.Pro5His
- rs921374310
- ClinGen CA411763939
- ClinVar RCV001896129
- TOPMed rs921374310
- Uncertain significance
- Immunodeficiency, common variable, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.04
- CADD 12.60
- PolyPhen-2 0.14
- SIFT 0.02
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available