P58L (p.Pro58Leu) variant of WAS (P42768)
P58L (p.Pro58Leu) in WAS (P42768) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in WAS. The record also includes published literature and structural context.
P58L (p.Pro58Leu) variant details
- p.Pro58Leu
- UniProt VAR 022806
- Pathogenic
- in WAS
- Missense
- EBI: Pathogenic (in WAS)
- UniProt: Pathogenic (in WAS)
- Structural context available
- Cited in: Identification of mutations in the Wiskott-Aldrich syndrome gene and characterization of a polymorphic dinucleotide… (PMID 7753869)
- Cited in: Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and… (PMID 10447259)