E133D (p.Glu133Asp) variant of WAS (P42768)
E133D (p.Glu133Asp) in WAS (P42768) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Thrombocytopenia 1; X-linked severe congenital neutropenia; Wiskott-Aldrich synd. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
E133D (p.Glu133Asp) variant details
- p.Glu133Asp
- rs2519280825
- ClinGen CA412867667
- ClinVar RCV003783760
- Pathogenic
- Thrombocytopenia 1; X-linked severe congenital neutropenia; Wiskott-Aldrich synd
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- REVEL 0.85
- CADD 23.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Thrombocytopenia 1; X-linked severe congenital neutropenia; Wisk)
- EBI: Pathogenic (in WAS)
- UniProt: Pathogenic (in WAS)
- Population evidence available
- Structural context available
- Cited in: WAS-Related Disorders. (PMID 20301357)