G125E (p.Gly125Glu) variant of WAS (P42768)
G125E (p.Gly125Glu) 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 0.92 / 1. The record also includes published literature and structural context.
G125E (p.Gly125Glu) variant details
- p.Gly125Glu
- rs1557006534
- ClinGen CA412867412
- ClinVar RCV001332389
- gnomAD rs1557006534
- Likely pathogenic
- Wiskott-Aldrich syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.923
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.86
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.79
- ClinVar: Likely pathogenic (Wiskott-Aldrich syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: WAS-Related Disorders. (PMID 20301357)