L35W (p.Leu35Trp) variant of FAS (P25445)
L35W (p.Leu35Trp) in FAS (P25445) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autoimmune lymphoproliferative syndrome type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes published literature and structural context.
L35W (p.Leu35Trp) variant details
- p.Leu35Trp
- rs2133471258
- ClinGen CA377507466
- ClinVar RCV002017764
- Ensembl rs2133471258
- Uncertain significance
- Autoimmune lymphoproliferative syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- AlphaMissense 0.09
- MetaLR 0.83
- MetaSVM 0.33
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.39
- ClinVar: Uncertain significance (Autoimmune lymphoproliferative syndrome type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Autoimmune Lymphoproliferative Syndrome. (PMID 20301287)