C203Y (p.Cys203Tyr) variant of XIAP (E3 ubiquitin-protein ligase XIAP)
C203Y (p.Cys203Tyr) 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 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
C203Y (p.Cys203Tyr) variant details
- p.Cys203Tyr
- rs387907301
- ClinGen CA260602
- ClinVar RCV000030806
- gnomAD rs387907301
- Pathogenic
- X-linked lymphoproliferative disease due to XIAP deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- REVEL 0.98
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (X-linked lymphoproliferative disease due to XIAP deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Cited in: Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable… (PMID 21173700)
- Cited in: X-Linked Lymphoproliferative Disease. (PMID 20301580)