W5C (p.Trp5Cys) variant of FAS (P25445)
W5C (p.Trp5Cys) 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.
W5C (p.Trp5Cys) variant details
- p.Trp5Cys
- rs1290926270
- ClinGen CA377505795
- ClinVar RCV002628719
- TOPMed rs1290926270
- Uncertain significance
- Autoimmune lymphoproliferative syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- CADD 25.90
- PolyPhen-2 0.89
- SIFT 0.01
- ClinVar: Uncertain significance (Autoimmune lymphoproliferative syndrome type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Autoimmune Lymphoproliferative Syndrome. (PMID 20301287)