T241P (p.Thr241Pro) variant of FAS (P25445)
T241P (p.Thr241Pro) 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 0.60 / 1. The record also includes published literature and structural context.
T241P (p.Thr241Pro) variant details
- p.Thr241Pro
- rs121913076
- ClinGen CA126567
- ClinVar RCV000017963
- UniProt VAR 013425
- Pathogenic
- FAS-related autoimmune lymphoproliferative syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- AlphaMissense 0.32
- MetaLR 0.80
- MetaSVM 0.01
- PolyPhen-2 0.97
- SIFT 0.07
- MutPred 0.87
- ClinVar: Pathogenic (FAS-related autoimmune lymphoproliferative syndrome)
- 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: Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome. (PMID 7540117)