I290T (p.Ile290Thr) variant of WAS (P42768)
I290T (p.Ile290Thr) 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; X-linked severe congenital neutropenia; Thrombocytopen. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
I290T (p.Ile290Thr) variant details
- p.Ile290Thr
- rs2062426981
- ClinGen CA412872351
- ClinVar RCV001280623
- ClinVar RCV001509118
- Likely pathogenic
- Wiskott-Aldrich syndrome; X-linked severe congenital neutropenia; Thrombocytopen
- Missense
- Variant Prioritization Score for Impact Estimate 0.905
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.82
- ClinVar: Likely pathogenic (Wiskott-Aldrich syndrome; X-linked severe congenital neutropenia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: WAS-Related Disorders. (PMID 20301357)