L180F (p.Leu180Phe) variant of FAS (P25445)
L180F (p.Leu180Phe) 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 0.61 / 1. The record also includes published literature and structural context.
L180F (p.Leu180Phe) variant details
- p.Leu180Phe
- rs1848491059
- ClinGen CA377509129
- cosmic curated COSV58238
- ClinVar RCV003518770
- Pathogenic
- Autoimmune lymphoproliferative syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- AlphaMissense 0.10
- MetaLR 0.79
- MetaSVM 0.28
- PolyPhen-2 1.00
- SIFT 0.09
- MutPred 0.41
- ClinVar: Pathogenic (Autoimmune lymphoproliferative syndrome type 1)
- EBI: Pathogenic (in non-Hodgkin lymphoma)
- UniProt: Pathogenic (in non-Hodgkin lymphoma)
- Structural context available
- Cited in: Somatic Fas mutations in non-Hodgkin's lymphoma: association with extranodal disease and autoimmunity. (PMID 9787134)
- Cited in: Autoimmune Lymphoproliferative Syndrome. (PMID 20301287)