T48I (p.Thr48Ile) variant of WAS (P42768)
T48I (p.Thr48Ile) in WAS (P42768) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in THC1. The record also includes published literature and structural context.
T48I (p.Thr48Ile) variant details
- p.Thr48Ile
- UniProt VAR 005826
- Pathogenic
- in THC1
- Missense
- EBI: Pathogenic (in THC1)
- UniProt: Pathogenic (in THC1)
- Structural context available
- Cited in: WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia. (PMID 8528199)
- Cited in: Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and… (PMID 10447259)