S19P (p.Ser19Pro) variant of FAS (P25445)
S19P (p.Ser19Pro) 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 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
S19P (p.Ser19Pro) variant details
- p.Ser19Pro
- rs1199807438
- ClinGen CA377507326
- ClinVar RCV002994457
- TOPMed rs1199807438
- Uncertain significance
- Autoimmune lymphoproliferative syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.0521
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.16
- 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 1.9e-05)
- Structural context available
- Cited in: Autoimmune Lymphoproliferative Syndrome. (PMID 20301287)