P45R (p.Pro45Arg) variant of TNFRSF13C (Q96RJ3)
P45R (p.Pro45Arg) 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 0.07 / 1. The record also includes population frequency data.
P45R (p.Pro45Arg) variant details
- p.Pro45Arg
- rs1028425566
- ClinGen CA411763468
- ClinVar RCV003504109
- TOPMed rs1028425566
- Uncertain significance
- Immunodeficiency, common variable, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.0728
- REVEL 0.01
- CADD 14.00
- PolyPhen-2 0.01
- SIFT 0.08
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)