R86A (p.Arg86Ala) variant of WAS (P42768)
R86A (p.Arg86Ala) 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.
R86A (p.Arg86Ala) variant details
- p.Arg86Ala
- rs2519278652
- ClinGen CA2580617034
- ClinVar RCV003226667
- ClinVar RCV003779810
- Pathogenic
- in WAS
- Missense
- EBI: Pathogenic (in WAS)
- UniProt: Pathogenic (in WAS)
- Structural context available
- Cited in: WAS-Related Disorders. (PMID 20301357)