V61M (p.Val61Met) variant of XIAP (E3 ubiquitin-protein ligase XIAP)
V61M (p.Val61Met) 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 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
V61M (p.Val61Met) variant details
- p.Val61Met
- rs2148089430
- ClinGen CA414122881
- NCI-TCGA Cosmic COSV1008
- cosmic curated COSV10084
- Uncertain significance
- X-linked lymphoproliferative disease due to XIAP deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- REVEL 0.77
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (X-linked lymphoproliferative disease due to XIAP deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Cited in: X-Linked Lymphoproliferative Disease. (PMID 20301580)