R84T (p.Arg84Thr) variant of XIAP (E3 ubiquitin-protein ligase XIAP)
R84T (p.Arg84Thr) 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 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
R84T (p.Arg84Thr) variant details
- p.Arg84Thr
- rs2522584748
- ClinGen CA414123041
- ClinVar RCV003512316
- Uncertain significance
- X-linked lymphoproliferative disease due to XIAP deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.48
- CADD 24.80
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Uncertain significance (X-linked lymphoproliferative disease due to XIAP deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.9e-06)
- Structural context available
- Cited in: X-Linked Lymphoproliferative Disease. (PMID 20301580)