G125R (p.Gly125Arg) variant of WAS (P42768)
G125R (p.Gly125Arg) in WAS (P42768) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Thrombocytopenia 1; X-linked severe congenital neutropenia; Wiskott-Aldrich synd. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
G125R (p.Gly125Arg) variant details
- p.Gly125Arg
- rs2147263882
- ClinGen CA412867409
- ClinVar RCV002004114
- Ensembl rs2147263882
- Likely pathogenic
- Thrombocytopenia 1; X-linked severe congenital neutropenia; Wiskott-Aldrich synd
- Missense
- Variant Prioritization Score for Impact Estimate 0.928
- AlphaMissense 0.97
- MetaLR 1.00
- MetaSVM 0.84
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.81
- ClinVar: Likely pathogenic (Thrombocytopenia 1; X-linked severe congenital neutropenia; Wisk)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: WAS-Related Disorders. (PMID 20301357)