N107S (p.Asn107Ser) variant of XIAP (E3 ubiquitin-protein ligase XIAP)
N107S (p.Asn107Ser) 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 not provided; X-linked lymphoproliferative disease due to XIAP deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
N107S (p.Asn107Ser) variant details
- p.Asn107Ser
- rs28382721
- ClinGen CA335076264
- ClinVar RCV001342388
- ClinVar RCV004692598
- Uncertain significance
- not provided; X-linked lymphoproliferative disease due to XIAP deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- REVEL 0.08
- CADD 15.70
- ClinVar: Uncertain significance (not provided; X-linked lymphoproliferative disease due to XIAP d)
- EBI: Variant of uncertain significance (in dbSNP:rs28382721)
- UniProt: Uncertain significance (in dbSNP:rs28382721)
- Most common in the HGDP:MAYA population (allele frequency 0.028)
- Structural context available
- Cited in: X-Linked Lymphoproliferative Disease. (PMID 20301580)