V42I (p.Val42Ile) variant of XIAP (E3 ubiquitin-protein ligase XIAP)
V42I (p.Val42Ile) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
V42I (p.Val42Ile) variant details
- p.Val42Ile
- rs1236823622
- ClinGen CA414122765
- ClinVar RCV003625376
- TOPMed rs1236823622
- Uncertain significance
- X-linked lymphoproliferative disease due to XIAP deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.07
- CADD 20.00
- PolyPhen-2 0.19
- SIFT 0.11
- ClinVar: Uncertain significance (X-linked lymphoproliferative disease due to XIAP deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available
- Cited in: X-Linked Lymphoproliferative Disease. (PMID 20301580)