C58S (p.Cys58Ser) variant of CTLA4 (Cytotoxic T-lymphocyte protein 4)
C58S (p.Cys58Ser) in CTLA4 (Cytotoxic T-lymphocyte protein 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency. The record also includes structural context.
C58S (p.Cys58Ser) variant details
- p.Cys58Ser
- rs1581573671
- ClinGen CA350138217
- ClinVar RCV000797058
- Ensembl rs1581573671
- Uncertain significance
- Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
- Missense
- ClinVar: Uncertain significance (Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuff)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available