G95S (p.Gly95Ser) variant of XIAP (E3 ubiquitin-protein ligase XIAP)
G95S (p.Gly95Ser) in XIAP (E3 ubiquitin-protein ligase XIAP) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely 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 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
G95S (p.Gly95Ser) variant details
- p.Gly95Ser
- rs745844064
- ClinGen CA10508009
- ClinVar RCV002191175
- ExAC rs745844064
- Likely benign
- X-linked lymphoproliferative disease due to XIAP deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.17
- CADD 22.80
- PolyPhen-2 0.83
- SIFT 0.69
- ClinVar: Likely benign (X-linked lymphoproliferative disease due to XIAP deficiency)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available
- Cited in: X-Linked Lymphoproliferative Disease. (PMID 20301580)