R49Q (p.Arg49Gln) variant of XIAP (E3 ubiquitin-protein ligase XIAP)
R49Q (p.Arg49Gln) in XIAP (E3 ubiquitin-protein ligase XIAP) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; X-linked lymphoproliferative disease due to XIAP deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
R49Q (p.Arg49Gln) variant details
- p.Arg49Gln
- rs770122195
- ClinGen CA10507999
- ClinVar RCV001509716
- ClinVar RCV004793507
- Conflicting interpretations
- not provided; X-linked lymphoproliferative disease due to XIAP deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- REVEL 0.42
- CADD 23.70
- PolyPhen-2 0.80
- SIFT 0.21
- ClinVar: Conflicting classifications of pathogenicity (not provided; X-linked lymphoproliferative disease due to XIAP d)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:ITU population (allele frequency 0.007)
- Structural context available
- Cited in: X-Linked Lymphoproliferative Disease. (PMID 20301580)