P5L (p.Pro5Leu) variant of TNFRSF13C (Q96RJ3)
P5L (p.Pro5Leu) 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 0.20 / 1. The record also includes population frequency data.
P5L (p.Pro5Leu) variant details
- p.Pro5Leu
- TOPMed rs921374310
- gnomAD rs921374310
- Uncertain significance
- Immunodeficiency, common variable, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.01
- CADD 7.90
- PolyPhen-2 0.01
- SIFT 0.07
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)