R91K (p.Arg91Lys) variant of XIAP (E3 ubiquitin-protein ligase XIAP)
R91K (p.Arg91Lys) 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 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
R91K (p.Arg91Lys) variant details
- p.Arg91Lys
- rs1330516966
- ClinGen CA414123087
- ClinVar RCV001219664
- ClinVar RCV006387211
- Uncertain significance
- X-linked lymphoproliferative disease due to XIAP deficiency; Inborn genetic dise
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.11
- CADD 14.70
- PolyPhen-2 0.07
- SIFT 0.87
- ClinVar: Uncertain significance (X-linked lymphoproliferative disease due to XIAP deficiency; Inb)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00024)
- 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)