D260N (p.Asp260Asn) variant of FAS (P25445)
D260N (p.Asp260Asn) in FAS (P25445) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Autoimmune lymphoproliferative syndrome type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
D260N (p.Asp260Asn) variant details
- p.Asp260Asn
- rs121913086
- ClinGen CA377509788
- cosmic curated COSV58239
- ClinVar RCV001379330
- Pathogenic
- not provided; Autoimmune lymphoproliferative syndrome type 1
- 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 (not provided; Autoimmune lymphoproliferative syndrome type 1)
- EBI: Pathogenic (in ALPS1A)
- UniProt: Pathogenic (in ALPS1A)
- Structural context available
- Cited in: Autoimmune Lymphoproliferative Syndrome. (PMID 20301287)