A134V (p.Ala134Val) variant of WAS (P42768)
A134V (p.Ala134Val) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
A134V (p.Ala134Val) variant details
- p.Ala134Val
- rs2519280832
- ClinGen CA412867707
- ClinVar RCV003064719
- Pathogenic
- Thrombocytopenia 1; Wiskott-Aldrich syndrome; X-linked severe congenital neutrop
- Missense
- Variant Prioritization Score for Impact Estimate 0.852
- REVEL 0.96
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Thrombocytopenia 1; Wiskott-Aldrich syndrome; X-linked severe co)
- EBI: Pathogenic (in WAS)
- UniProt: Pathogenic (in WAS)
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Cited in: WAS-Related Disorders. (PMID 20301357)