E25Q (p.Glu25Gln) variant of XIAP (E3 ubiquitin-protein ligase XIAP)
E25Q (p.Glu25Gln) 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 Inborn genetic diseases; X-linked lymphoproliferative disease due to XIAP defici. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
E25Q (p.Glu25Gln) variant details
- p.Glu25Gln
- rs781204574
- ClinGen CA10507991
- cosmic curated COSV63022
- ClinVar RCV000640876
- Conflicting interpretations
- Inborn genetic diseases; X-linked lymphoproliferative disease due to XIAP defici
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.09
- CADD 19.70
- PolyPhen-2 0.22
- SIFT 0.52
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; X-linked lymphoproliferative disease du)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00036)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)