L57Q (p.Leu57Gln) variant of TNFRSF13C (Q96RJ3)
L57Q (p.Leu57Gln) 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 0.24 / 1. The record also includes population frequency data.
L57Q (p.Leu57Gln) variant details
- p.Leu57Gln
- gnomAD rs1194683094
- Uncertain significance
- Immunodeficiency, common variable, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.17
- CADD 23.40
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 4)
- UniProt: Uncertain significance
- Population evidence available