A79T (p.Ala79Thr) variant of XIAP (E3 ubiquitin-protein ligase XIAP)
A79T (p.Ala79Thr) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
A79T (p.Ala79Thr) variant details
- p.Ala79Thr
- TOPMed rs2053346523
- Uncertain significance
- X-linked lymphoproliferative disease due to XIAP deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.52
- CADD 25.60
- PolyPhen-2 0.99
- SIFT 0.03
- ClinVar: Uncertain significance (X-linked lymphoproliferative disease due to XIAP deficiency)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available