D260V (p.Asp260Val) variant of FAS (P25445)
D260V (p.Asp260Val) 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.
D260V (p.Asp260Val) variant details
- p.Asp260Val
- rs28929498
- ClinGen CA126581
- ClinVar RCV000017968
- ClinVar RCV002513090
- Pathogenic
- Autoimmune lymphoproliferative syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.907
- AlphaMissense 0.82
- MetaLR 0.90
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.91
- ClinVar: Pathogenic (Autoimmune lymphoproliferative syndrome type 1)
- EBI: Pathogenic (in ALPS1A)
- UniProt: Pathogenic (in ALPS1A)
- Structural context available
- Cited in: The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and… (PMID 11418480)
- Cited in: The Fas-FADD death domain complex structure reveals the basis of DISC assembly and disease mutations. (PMID 20935634)