R86H (p.Arg86His) variant of WAS (P42768)
R86H (p.Arg86His) in WAS (P42768) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Wiskott-Aldrich syndrome; Thrombocytopenia 1; X-linked severe congenital neutrop. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
R86H (p.Arg86His) variant details
- p.Arg86His
- rs132630268
- ClinGen CA341003
- ClinVar RCV000011864
- ClinVar RCV000414284
- Pathogenic
- Wiskott-Aldrich syndrome; Thrombocytopenia 1; X-linked severe congenital neutrop
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- REVEL 0.92
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.08
- CADD 28.60
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Wiskott-Aldrich syndrome; Thrombocytopenia 1; X-linked severe co)
- EBI: Pathogenic (in WAS)
- UniProt: Pathogenic (in WAS)
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Cited in: Identification of WASP mutations in patients with Wiskott-Aldrich syndrome and isolated thrombocytopenia reveals… (PMID 8528198)
- Cited in: WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia. (PMID 8528199)