A17V (p.Ala17Val) variant of WAS (P42768)
A17V (p.Ala17Val) in WAS (P42768) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Wiskott-Aldrich syndrome; X-linked severe congenital neutropenia; Thrombocytopen. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
A17V (p.Ala17Val) variant details
- p.Ala17Val
- rs782380914
- ClinGen CA10403834
- ClinVar RCV003781970
- ExAC rs782380914
- Likely benign
- Wiskott-Aldrich syndrome; X-linked severe congenital neutropenia; Thrombocytopen
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.26
- CADD 1.58
- PolyPhen-2 0.00
- SIFT 0.29
- ClinVar: Likely benign (Wiskott-Aldrich syndrome; X-linked severe congenital neutropenia)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 5.2e-05)
- Structural context available
- Cited in: WAS-Related Disorders. (PMID 20301357)