P136L (p.Pro136Leu) variant of CTLA4 (Cytotoxic T-lymphocyte protein 4)
P136L (p.Pro136Leu) in CTLA4 (Cytotoxic T-lymphocyte protein 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency. The record also includes structural context.
P136L (p.Pro136Leu) variant details
- p.Pro136Leu
- rs2469719636
- ClinGen CA350138735
- ClinVar RCV002293040
- ClinVar RCV006437144
- Likely pathogenic
- Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
- Missense
- ClinVar: Likely pathogenic (Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuff)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available