P16A (p.Pro16Ala) variant of WAS (P42768)
P16A (p.Pro16Ala) in WAS (P42768) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich synd. The record also includes published literature and structural context.
P16A (p.Pro16Ala) variant details
- p.Pro16Ala
- rs2519277458
- ClinGen CA412865344
- ClinVar RCV002705762
- Uncertain significance
- X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich synd
- Missense
- ClinVar: Uncertain significance (X-linked severe congenital neutropenia; Thrombocytopenia 1; Wisk)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: WAS-Related Disorders. (PMID 20301357)