L4F (p.Leu4Phe) variant of CTLA4 (Cytotoxic T-lymphocyte protein 4)
L4F (p.Leu4Phe) in CTLA4 (Cytotoxic T-lymphocyte protein 4) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency.
L4F (p.Leu4Phe) variant details
- p.Leu4Phe
- Ensembl rs1688656933
- Uncertain significance
- Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
- Missense
- ClinVar: Uncertain significance (Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuff)
- UniProt: Uncertain significance