G109S (p.Gly109Ser) variant of TNFRSF9 (Q07011)
G109S (p.Gly109Ser) in TNFRSF9 (Q07011) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in IMD109. The record also includes published literature and structural context.
G109S (p.Gly109Ser) variant details
- p.Gly109Ser
- rs2527270851
- ClinGen CA338160330
- ClinVar RCV003152819
- UniProt VAR 088225
- Uncertain significance
- in IMD109
- Missense
- EBI: Variant of uncertain significance (in IMD109)
- UniProt: Uncertain significance (in IMD109)
- Structural context available
- Cited in: Immunodeficiency and EBV-induced lymphoproliferation caused by 4-1BB deficiency. (PMID 30872117)