L189P (p.Leu189Pro) variant of XIAP (E3 ubiquitin-protein ligase XIAP)
L189P (p.Leu189Pro) in XIAP (E3 ubiquitin-protein ligase XIAP) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of X-linked lymphoproliferative disease due to XIAP deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes published literature and structural context.
L189P (p.Leu189Pro) variant details
- p.Leu189Pro
- rs1569477871
- ClinGen CA414123960
- ClinVar RCV000766125
- Ensembl rs1569477871
- Pathogenic
- X-linked lymphoproliferative disease due to XIAP deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.709
- AlphaMissense 0.99
- MetaLR 0.64
- MetaSVM 0.44
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Pathogenic (X-linked lymphoproliferative disease due to XIAP deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: X-Linked Lymphoproliferative Disease. (PMID 20301580)