A56V (p.Ala56Val) variant of WAS (P42768)
A56V (p.Ala56Val) in WAS (P42768) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Thrombocytopenia 1; Wiskott-Aldrich syndrome; X-linked severe congenital neutrop. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
A56V (p.Ala56Val) variant details
- p.Ala56Val
- rs132630269
- ClinGen CA255723
- NCI-TCGA Cosmic COSV6499
- ClinVar RCV000011865
- Pathogenic
- Thrombocytopenia 1; Wiskott-Aldrich syndrome; X-linked severe congenital neutrop
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- AlphaMissense 0.46
- MetaLR 0.98
- MetaSVM 1.13
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.78
- ClinVar: Pathogenic (Thrombocytopenia 1; Wiskott-Aldrich syndrome; X-linked severe co)
- EBI: Pathogenic (in THC1)
- UniProt: Pathogenic (in THC1)
- Structural context available
- Cited in: X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene. (PMID 7795648)
- Cited in: Defective actin polymerization in EBV-transformed B-cell lines from patients with the Wiskott-Aldrich syndrome. (PMID 9713366)