L47P (p.Leu47Pro) variant of XIAP (E3 ubiquitin-protein ligase XIAP)
L47P (p.Leu47Pro) in XIAP (E3 ubiquitin-protein ligase XIAP) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of X-linked lymphoproliferative disease due to XIAP deficiency. The record also includes published literature and structural context.
L47P (p.Leu47Pro) variant details
- p.Leu47Pro
- rs2522584443
- ClinGen CA414122795
- ClinVar RCV003625371
- Uncertain significance
- X-linked lymphoproliferative disease due to XIAP deficiency
- Missense
- ClinVar: Uncertain significance (X-linked lymphoproliferative disease due to XIAP deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: X-Linked Lymphoproliferative Disease. (PMID 20301580)