G68S (p.Gly68Ser) variant of TNFRSF13C (Q96RJ3)
G68S (p.Gly68Ser) 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 0.20 / 1. The record also includes population frequency data.
G68S (p.Gly68Ser) variant details
- p.Gly68Ser
- rs756436527
- ClinGen CA411763290
- ClinVar RCV003612215
- ExAC rs756436527
- Uncertain significance
- Immunodeficiency, common variable, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.02
- CADD 1.22
- PolyPhen-2 0.06
- SIFT 0.42
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)