S24P (p.Ser24Pro) variant of WAS (P42768)
S24P (p.Ser24Pro) 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; Thrombocytopenia 1; 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.
S24P (p.Ser24Pro) variant details
- p.Ser24Pro
- rs2062410722
- ClinGen CA412865528
- ClinVar RCV001035433
- Ensembl rs2062410722
- Pathogenic
- X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich synd
- Missense
- Variant Prioritization Score for Impact Estimate 0.934
- AlphaMissense 0.91
- MetaLR 0.98
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.84
- ClinVar: Pathogenic (X-linked severe congenital neutropenia; Thrombocytopenia 1; Wisk)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: WAS-Related Disorders. (PMID 20301357)