E21K (p.Glu21Lys) variant of XIAP (E3 ubiquitin-protein ligase XIAP)
E21K (p.Glu21Lys) 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
E21K (p.Glu21Lys) variant details
- p.Glu21Lys
- rs770762804
- ClinGen CA10507989
- ClinVar RCV003623950
- ExAC rs770762804
- Uncertain significance
- X-linked lymphoproliferative disease due to XIAP deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.06
- CADD 22.40
- PolyPhen-2 0.12
- SIFT 0.05
- ClinVar: Uncertain significance (X-linked lymphoproliferative disease due to XIAP deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00011)
- Structural context available
- Cited in: X-Linked Lymphoproliferative Disease. (PMID 20301580)