A46G (p.Ala46Gly) variant of TNFRSF13C (Q96RJ3)
A46G (p.Ala46Gly) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data.
A46G (p.Ala46Gly) variant details
- p.Ala46Gly
- 1000Genomes rs750766446
- ExAC rs750766446
- gnomAD rs750766446
- Uncertain significance
- Immunodeficiency, common variable, 4; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.125
- REVEL 0.04
- CADD 12.00
- PolyPhen-2 0.03
- SIFT 0.18
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 4; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)