C135Y (p.Cys135Tyr) variant of FAS (P25445)
C135Y (p.Cys135Tyr) in FAS (P25445) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autoimmune lymphoproliferative syndrome type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes published literature and structural context.
C135Y (p.Cys135Tyr) variant details
- p.Cys135Tyr
- rs1404280764
- ClinGen CA377508737
- ClinVar RCV003062288
- Likely pathogenic
- Autoimmune lymphoproliferative syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- AlphaMissense 0.96
- MetaLR 0.78
- MetaSVM 0.31
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.62
- ClinVar: Likely pathogenic (Autoimmune lymphoproliferative syndrome type 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Autoimmune Lymphoproliferative Syndrome. (PMID 20301287)