L179R (p.Leu179Arg) variant of FAS (P25445)
L179R (p.Leu179Arg) in FAS (P25445) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Splenomegaly; Autoimmune lymphoproliferative syndrome type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes published literature and structural context.
L179R (p.Leu179Arg) variant details
- p.Leu179Arg
- rs1554851718
- ClinGen CA377509124
- ClinVar RCV000626571
- ClinVar RCV001051234
- Likely pathogenic
- not provided; Splenomegaly; Autoimmune lymphoproliferative syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- AlphaMissense 0.36
- MetaLR 0.82
- MetaSVM -0.00
- PolyPhen-2 0.94
- SIFT 0.04
- MutPred 0.54
- ClinVar: Likely pathogenic (not provided; Splenomegaly; Autoimmune lymphoproliferative syndr)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Autoimmune Lymphoproliferative Syndrome. (PMID 20301287)