G36E (p.Gly36Glu) variant of TNFRSF13C (Q96RJ3)
G36E (p.Gly36Glu) 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 0.06 / 1. The record also includes population frequency data.
G36E (p.Gly36Glu) variant details
- p.Gly36Glu
- TOPMed rs2077634478
- Uncertain significance
- Immunodeficiency, common variable, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.0577
- REVEL 0.04
- CADD 0.03
- PolyPhen-2 0.00
- SIFT 0.90
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 4)
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)