G286E (p.Gly286Glu) variant of FAS (P25445)
G286E (p.Gly286Glu) in FAS (P25445) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autoimmune lymphoproliferative syndrome type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
G286E (p.Gly286Glu) variant details
- p.Gly286Glu
- rs2119446879
- ClinGen CA377509970
- cosmic curated COSV58239
- ClinVar RCV003009179
- Pathogenic
- Autoimmune lymphoproliferative syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.908
- AlphaMissense 0.85
- MetaLR 0.89
- MetaSVM 0.91
- PolyPhen-2 0.97
- SIFT 0.02
- MutPred 0.84
- ClinVar: Pathogenic (Autoimmune lymphoproliferative syndrome type 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Autoimmune Lymphoproliferative Syndrome. (PMID 20301287)