R91G (p.Arg91Gly) variant of XIAP (E3 ubiquitin-protein ligase XIAP)
R91G (p.Arg91Gly) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes published literature and structural context.
R91G (p.Arg91Gly) variant details
- p.Arg91Gly
- rs2053346722
- ClinGen CA414123085
- ClinVar RCV001206134
- Ensembl rs2053346722
- Uncertain significance
- X-linked lymphoproliferative disease due to XIAP deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- AlphaMissense 0.11
- MetaLR 0.21
- MetaSVM -0.84
- PolyPhen-2 0.02
- SIFT 0.06
- EVE 0.21
- ClinVar: Uncertain significance (X-linked lymphoproliferative disease due to XIAP deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: X-Linked Lymphoproliferative Disease. (PMID 20301580)