E99G (p.Glu99Gly) variant of XIAP (E3 ubiquitin-protein ligase XIAP)
E99G (p.Glu99Gly) in XIAP (E3 ubiquitin-protein ligase XIAP) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
E99G (p.Glu99Gly) variant details
- p.Glu99Gly
- rs769904534
- ClinGen CA10508010
- ClinVar RCV002173698
- ClinVar RCV003438958
- Conflicting interpretations
- not provided; X-linked lymphoproliferative disease due to XIAP deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.12
- CADD 22.00
- PolyPhen-2 0.00
- SIFT 0.08
- ClinVar: Conflicting classifications of pathogenicity (not provided; X-linked lymphoproliferative disease due to XIAP d)
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 0.00037)
- Structural context available
- Cited in: X-Linked Lymphoproliferative Disease. (PMID 20301580)