P43L (p.Pro43Leu) variant of TNFRSF13C (Q96RJ3)
P43L (p.Pro43Leu) 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 0.25 / 1. The record also includes population frequency data.
P43L (p.Pro43Leu) variant details
- p.Pro43Leu
- rs2077634246
- ClinGen CA411763490
- ClinVar RCV002020238
- TOPMed rs2077634246
- Uncertain significance
- Immunodeficiency, common variable, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.17
- CADD 23.50
- PolyPhen-2 0.69
- SIFT 0.03
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available