N32K (p.Asn32Lys) variant of WAS (P42768)
N32K (p.Asn32Lys) in WAS (P42768) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Thrombocytopenia 1; Wiskott-Aldrich syndrome; X-linked severe congenital neutrop. The record also includes structural context.
N32K (p.Asn32Lys) variant details
- p.Asn32Lys
- Ensembl rs1602176327
- Uncertain significance
- Thrombocytopenia 1; Wiskott-Aldrich syndrome; X-linked severe congenital neutrop
- Missense
- ClinVar: Uncertain significance (Thrombocytopenia 1; Wiskott-Aldrich syndrome; X-linked severe co)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available