S19L (p.Ser19Leu) variant of FAS (P25445)
S19L (p.Ser19Leu) 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 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
S19L (p.Ser19Leu) variant details
- p.Ser19Leu
- rs754339875
- ClinGen CA5593024
- cosmic curated COSV10518
- ClinVar RCV003633875
- Uncertain significance
- Autoimmune lymphoproliferative syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.0793
- CADD 0.08
- PolyPhen-2 0.00
- SIFT 0.50
- ClinVar: Uncertain significance (Autoimmune lymphoproliferative syndrome type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available
- Cited in: Autoimmune Lymphoproliferative Syndrome. (PMID 20301287)