S32Y (p.Ser32Tyr) variant of FAS (P25445)
S32Y (p.Ser32Tyr) 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 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
S32Y (p.Ser32Tyr) variant details
- p.Ser32Tyr
- rs866603022
- ClinGen CA377507448
- ClinVar RCV001348987
- TOPMed rs866603022
- Uncertain significance
- Autoimmune lymphoproliferative syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- CADD 2.79
- PolyPhen-2 0.06
- SIFT 0.27
- 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)