F84L (p.Phe84Leu) variant of WAS (P42768)
F84L (p.Phe84Leu) in WAS (P42768) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely 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.
F84L (p.Phe84Leu) variant details
- p.Phe84Leu
- rs2147262951
- ClinGen CA412866605
- ClinVar RCV001379030
- Ensembl rs2147262951
- Likely pathogenic
- Wiskott-Aldrich syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.937
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.80
- ClinVar: Likely pathogenic (Wiskott-Aldrich syndrome)
- EBI: Pathogenic (in WAS)
- UniProt: Pathogenic (in WAS)
- Structural context available
- Cited in: Absence of expression of the Wiskott-Aldrich syndrome protein in peripheral blood cells of Wiskott-Aldrich syndrome… (PMID 9683546)
- Cited in: WAS-Related Disorders. (PMID 20301357)