D260Y (p.Asp260Tyr) variant of FAS (P25445)
D260Y (p.Asp260Tyr) in FAS (P25445) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of FAS-related autoimmune lymphoproliferative syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
D260Y (p.Asp260Tyr) variant details
- p.Asp260Tyr
- rs121913086
- ClinGen CA126607
- ClinVar RCV000017980
- UniProt VAR 013430
- Pathogenic
- FAS-related autoimmune lymphoproliferative syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.839
- AlphaMissense 0.59
- MetaLR 0.90
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.94
- ClinVar: Pathogenic (FAS-related autoimmune lymphoproliferative syndrome)
- EBI: Pathogenic (in ALPS1A)
- UniProt: Pathogenic (in ALPS1A)
- Structural context available
- Cited in: The Fas-FADD death domain complex structure reveals the basis of DISC assembly and disease mutations. (PMID 20935634)
- Cited in: Chronic lymphadenopathy simulating malignant lymphoma. (PMID 4165068)