N35S (p.Asn35Ser) variant of XIAP (E3 ubiquitin-protein ligase XIAP)
N35S (p.Asn35Ser) 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.
N35S (p.Asn35Ser) variant details
- p.Asn35Ser
- rs769664549
- ClinGen CA10507993
- ClinVar RCV003513322
- ExAC rs769664549
- Uncertain significance
- X-linked lymphoproliferative disease due to XIAP deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.21
- CADD 16.00
- PolyPhen-2 0.07
- SIFT 0.16
- ClinVar: Uncertain significance (X-linked lymphoproliferative disease due to XIAP deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 5.7e-05)
- Structural context available
- Cited in: X-Linked Lymphoproliferative Disease. (PMID 20301580)