E133K (p.Glu133Lys) variant of WAS (P42768)
E133K (p.Glu133Lys) in WAS (P42768) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Wiskott-Aldrich syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
E133K (p.Glu133Lys) variant details
- p.Glu133Lys
- rs2062417344
- ClinGen CA412867622
- ClinVar RCV001090058
- Ensembl rs2062417344
- Pathogenic/Likely pathogenic
- Wiskott-Aldrich syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.935
- AlphaMissense 0.86
- MetaLR 0.99
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.84
- ClinVar: Pathogenic/Likely pathogenic (Wiskott-Aldrich syndrome)
- EBI: Pathogenic (in WAS)
- UniProt: Pathogenic (in WAS)
- Structural context available
- Cited in: Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and… (PMID 10447259)
- Cited in: Identification of mutations in the Wiskott-Aldrich syndrome gene and characterization of a polymorphic dinucleotide… (PMID 7753869)