G76A (p.Gly76Ala) variant of XIAP (E3 ubiquitin-protein ligase XIAP)
G76A (p.Gly76Ala) 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; Inborn genetic dise. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
G76A (p.Gly76Ala) variant details
- p.Gly76Ala
- rs1481750191
- ClinGen CA414122990
- ClinVar RCV001210190
- ClinVar RCV005298727
- Uncertain significance
- X-linked lymphoproliferative disease due to XIAP deficiency; Inborn genetic dise
- Missense
- Variant Prioritization Score for Impact Estimate 0.683
- REVEL 0.66
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (X-linked lymphoproliferative disease due to XIAP deficiency; Inb)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 9.6e-05)
- 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)