G47R (p.Gly47Arg) variant of TNFRSF13C (Q96RJ3)
G47R (p.Gly47Arg) 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 0.10 / 1. The record also includes population frequency data.
G47R (p.Gly47Arg) variant details
- p.Gly47Arg
- rs1301803591
- gnomAD rs1301803591
- Uncertain significance
- Immunodeficiency, common variable, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.0964
- REVEL 0.04
- CADD 4.56
- PolyPhen-2 0.02
- SIFT 0.11
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 4)
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)