A68V (p.Ala68Val) variant of XIAP (E3 ubiquitin-protein ligase XIAP)
A68V (p.Ala68Val) 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 not provided; X-linked lymphoproliferative disease due to XIAP deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
A68V (p.Ala68Val) variant details
- p.Ala68Val
- rs2148089461
- ClinGen CA414122935
- ClinVar RCV001760757
- ClinVar RCV002032872
- Uncertain significance
- not provided; X-linked lymphoproliferative disease due to XIAP deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.15
- CADD 15.40
- PolyPhen-2 0.02
- SIFT 0.28
- ClinVar: Uncertain significance (not provided; X-linked lymphoproliferative disease due to XIAP d)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00024)
- Structural context available
- Cited in: X-Linked Lymphoproliferative Disease. (PMID 20301580)