A15T (p.Ala15Thr) variant of XIAP (E3 ubiquitin-protein ligase XIAP)
A15T (p.Ala15Thr) in XIAP (E3 ubiquitin-protein ligase XIAP) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of X-linked lymphoproliferative disease due to XIAP deficiency. The record also includes structural context.
A15T (p.Ala15Thr) variant details
- p.Ala15Thr
- cosmic curated COSV63022
- Uncertain significance
- X-linked lymphoproliferative disease due to XIAP deficiency
- Missense
- ClinVar: Uncertain significance (X-linked lymphoproliferative disease due to XIAP deficiency)
- UniProt: Uncertain significance
- Structural context available