W64R (p.Trp64Arg) variant of WAS (P42768)
W64R (p.Trp64Arg) in WAS (P42768) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of X-linked severe congenital neutropenia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
W64R (p.Trp64Arg) variant details
- p.Trp64Arg
- rs2147262851
- ClinGen CA412866352
- ClinVar RCV002246812
- Ensembl rs2147262851
- Pathogenic
- X-linked severe congenital neutropenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.953
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.85
- ClinVar: Pathogenic (X-linked severe congenital neutropenia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: WAS-Related Disorders. (PMID 20301357)