C43Y (p.Cys43Tyr) variant of WAS (P42768)
C43Y (p.Cys43Tyr) 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 0.91 / 1. The record also includes published literature and structural context.
C43Y (p.Cys43Tyr) variant details
- p.Cys43Tyr
- rs2147262523
- ClinGen CA412865923
- ClinVar RCV002245338
- Ensembl rs2147262523
- Likely pathogenic
- Wiskott-Aldrich syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.91
- AlphaMissense 0.79
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.80
- ClinVar: Likely pathogenic (Wiskott-Aldrich syndrome)
- EBI: Likely pathogenic (in WAS)
- UniProt: Likely pathogenic (in WAS)
- Structural context available
- Cited in: WAS-Related Disorders. (PMID 20301357)