R250P (p.Arg250Pro) variant of FAS (P25445)
R250P (p.Arg250Pro) 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 0.95 / 1. The record also includes published literature and structural context.
R250P (p.Arg250Pro) variant details
- p.Arg250Pro
- rs121913080
- ClinGen CA126583
- ClinVar RCV000017969
- ClinVar RCV000638906
- Pathogenic
- Autoimmune lymphoproliferative syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.953
- AlphaMissense 0.98
- MetaLR 0.93
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.93
- ClinVar: Pathogenic (Autoimmune lymphoproliferative syndrome type 1)
- EBI: Pathogenic (in ALPS1A)
- UniProt: Pathogenic (in ALPS1A)
- Structural context available
- Cited in: Lymphoproliferative syndrome with autoimmunity: A possible genetic basis for dominant expression of the clinical… (PMID 10515860)
- Cited in: Hereditary splenomegaly with hypersplenism. (PMID 4852259)