R30H (p.Arg30His) variant of TNFRSF13C (Q96RJ3)
R30H (p.Arg30His) 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 0.41 / 1. The record also includes population frequency data.
R30H (p.Arg30His) variant details
- p.Arg30His
- rs1334352355
- ClinGen CA411763637
- ClinVar RCV001318142
- TOPMed rs1334352355
- Uncertain significance
- Immunodeficiency, common variable, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.17
- CADD 24.30
- PolyPhen-2 0.98
- SIFT 0.00
- 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)