C59F (p.Cys59Phe) variant of FAS (P25445)
C59F (p.Cys59Phe) 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 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
C59F (p.Cys59Phe) variant details
- p.Cys59Phe
- rs886047459
- ClinGen CA10636825
- ClinVar RCV000277378
- TOPMed rs886047459
- Uncertain significance
- Autoimmune lymphoproliferative syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- CADD 23.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Autoimmune lymphoproliferative syndrome type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Autoimmune Lymphoproliferative Syndrome. (PMID 20301287)