P45L (p.Pro45Leu) variant of TNFRSF13C (Q96RJ3)
P45L (p.Pro45Leu) 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 0.08 / 1. The record also includes population frequency data.
P45L (p.Pro45Leu) variant details
- p.Pro45Leu
- rs1028425566
- ClinGen CA411763465
- ClinVar RCV001897180
- TOPMed rs1028425566
- Uncertain significance
- Immunodeficiency, common variable, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.0821
- REVEL 0.02
- CADD 14.10
- PolyPhen-2 0.01
- SIFT 0.11
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)