V50D (p.Val50Asp) variant of WAS (P42768)
V50D (p.Val50Asp) in WAS (P42768) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
V50D (p.Val50Asp) variant details
- p.Val50Asp
- rs2147262772
- ClinGen CA412866129
- ClinVar RCV001904428
- Ensembl rs2147262772
- Uncertain significance
- X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich synd
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- REVEL 0.90
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (X-linked severe congenital neutropenia; Thrombocytopenia 1; Wisk)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Cited in: WAS-Related Disorders. (PMID 20301357)