P5S (p.Pro5Ser) variant of TNFRSF13C (Q96RJ3)
P5S (p.Pro5Ser) in TNFRSF13C (Q96RJ3) is a missense change. Clinical records from ClinVar 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 0.03 / 1. The record also includes population frequency data.
P5S (p.Pro5Ser) variant details
- p.Pro5Ser
- gnomAD rs1172812848
- Uncertain significance
- Immunodeficiency, common variable, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.0302
- REVEL 0.01
- CADD 0.10
- PolyPhen-2 0.00
- SIFT 0.53
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 4)
- UniProt: Uncertain significance
- Population evidence available