G4A (p.Gly4Ala) variant of TNFRSF13C (Q96RJ3)
G4A (p.Gly4Ala) in TNFRSF13C (Q96RJ3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Immunodeficiency, common variable, 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data.
G4A (p.Gly4Ala) variant details
- p.Gly4Ala
- rs2077635455
- ClinGen CA411763947
- ClinVar RCV002847429
- ClinVar RCV004695257
- Uncertain significance
- not provided; Immunodeficiency, common variable, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.157
- REVEL 0.07
- CADD 15.30
- PolyPhen-2 0.07
- SIFT 0.03
- ClinVar: Uncertain significance (not provided; Immunodeficiency, common variable, 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)