N100D (p.Asn100Asp) variant of XIAP (E3 ubiquitin-protein ligase XIAP)
N100D (p.Asn100Asp) in XIAP (E3 ubiquitin-protein ligase XIAP) is a missense change. Clinical records from ClinVar 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 0.24 / 1. The record also includes population frequency data and structural context.
N100D (p.Asn100Asp) variant details
- p.Asn100Asp
- TOPMed rs1379036403
- gnomAD rs1379036403
- Uncertain significance
- X-linked lymphoproliferative disease due to XIAP deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.09
- CADD 19.80
- ClinVar: Uncertain significance (X-linked lymphoproliferative disease due to XIAP deficiency)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available