R62Q (p.Arg62Gln) variant of XIAP (E3 ubiquitin-protein ligase XIAP)
R62Q (p.Arg62Gln) 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 XIAP-related disorder; X-linked lymphoproliferative disease due to XIAP deficien. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
R62Q (p.Arg62Gln) variant details
- p.Arg62Gln
- rs755189208
- ClinGen CA10508004
- NCI-TCGA Cosmic COSV6302
- cosmic curated COSV63023
- Uncertain significance
- XIAP-related disorder; X-linked lymphoproliferative disease due to XIAP deficien
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.16
- CADD 16.00
- PolyPhen-2 0.03
- SIFT 0.27
- ClinVar: Uncertain significance (XIAP-related disorder; X-linked lymphoproliferative disease due)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00037)
- Structural context available
- Cited in: X-Linked Lymphoproliferative Disease. (PMID 20301580)