I494N (p.Ile494Asn) variant of XIAP (E3 ubiquitin-protein ligase XIAP)
I494N (p.Ile494Asn) in XIAP (E3 ubiquitin-protein ligase XIAP) is a missense change. Clinical records from ClinVar and UniProt describe it as likely 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 0.37 / 1. The record also includes population frequency data and structural context.
I494N (p.Ile494Asn) variant details
- p.Ile494Asn
- Ensembl rs61752968
- Likely pathogenic
- X-linked lymphoproliferative disease due to XIAP deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.22
- CADD 25.20
- PolyPhen-2 0.61
- SIFT 0.00
- ClinVar: Likely pathogenic (X-linked lymphoproliferative disease due to XIAP deficiency)
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available