R86L (p.Arg86Leu) variant of WAS (P42768)
R86L (p.Arg86Leu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
R86L (p.Arg86Leu) variant details
- p.Arg86Leu
- rs132630268
- ClinGen CA341001
- ClinVar RCV000011863
- UniProt VAR 005831
- Pathogenic
- Wiskott-Aldrich syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.94
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.78
- ClinVar: Pathogenic (Wiskott-Aldrich syndrome)
- EBI: Pathogenic (in WAS)
- UniProt: Pathogenic (in WAS)
- Structural context available
- Cited in: WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia. (PMID 8528199)
- Cited in: WAS-Related Disorders. (PMID 20301357)