F128C (p.Phe128Cys) variant of WAS (P42768)
F128C (p.Phe128Cys) in WAS (P42768) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich synd. The record also includes published literature and structural context.
F128C (p.Phe128Cys) variant details
- p.Phe128Cys
- rs2519280746
- ClinGen CA412867482
- ClinVar RCV002871544
- Likely pathogenic
- X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich synd
- Missense
- ClinVar: Likely pathogenic (X-linked severe congenital neutropenia; Thrombocytopenia 1; Wisk)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: WAS-Related Disorders. (PMID 20301357)