A56T (p.Ala56Thr) variant of WAS (P42768)
A56T (p.Ala56Thr) in WAS (P42768) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes published literature and structural context.
A56T (p.Ala56Thr) variant details
- p.Ala56Thr
- UniProt VAR 074020
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Intermittent X-linked thrombocytopenia with a novel WAS gene mutation. (PMID 24115682)