G8E (p.Gly8Glu) variant of XIAP (E3 ubiquitin-protein ligase XIAP)
G8E (p.Gly8Glu) in XIAP (E3 ubiquitin-protein ligase XIAP) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of X-linked lymphoproliferative disease due to XIAP deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
G8E (p.Gly8Glu) variant details
- p.Gly8Glu
- rs140889955
- ClinGen CA10507986
- ClinVar RCV001512709
- 1000Genomes rs140889955
- Benign
- X-linked lymphoproliferative disease due to XIAP deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- REVEL 0.02
- CADD 10.50
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Benign (X-linked lymphoproliferative disease due to XIAP deficiency)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:YRI population (allele frequency 0.0058)
- Structural context available
- Cited in: X-Linked Lymphoproliferative Disease. (PMID 20301580)