F128S (p.Phe128Ser) variant of WAS (P42768)
F128S (p.Phe128Ser) in WAS (P42768) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Thrombocytopenia 1; Wiskott-Aldrich syndrome; X-linked severe congenital neutrop. The record also includes published literature and structural context.
F128S (p.Phe128Ser) variant details
- p.Phe128Ser
- rs2519280746
- ClinGen CA412867479
- ClinVar RCV002508888
- ClinVar RCV003775557
- Pathogenic/Likely pathogenic
- Thrombocytopenia 1; Wiskott-Aldrich syndrome; X-linked severe congenital neutrop
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Thrombocytopenia 1; Wiskott-Aldrich syndrome; X-linked severe co)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: WAS-Related Disorders. (PMID 20301357)