A25T (p.Ala25Thr) variant of FAS (P25445)
A25T (p.Ala25Thr) 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 0.58 / 1. The record also includes published literature and structural context.
A25T (p.Ala25Thr) variant details
- p.Ala25Thr
- rs606231364
- ClinGen CA212971
- ClinVar RCV000017972
- UniProt VAR 013416
- Pathogenic
- FAS-related autoimmune lymphoproliferative syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- AlphaMissense 0.10
- MetaLR 0.79
- MetaSVM -0.17
- PolyPhen-2 0.93
- SIFT 0.20
- MutPred 0.24
- ClinVar: Pathogenic (FAS-related autoimmune lymphoproliferative syndrome)
- EBI: Pathogenic (in non-Hodgkin lymphoma)
- UniProt: Pathogenic (in non-Hodgkin lymphoma)
- Structural context available
- Cited in: Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance. (PMID 10090885)
- Cited in: Somatic Fas mutations in non-Hodgkin's lymphoma: association with extranodal disease and autoimmunity. (PMID 9787134)