A17S (p.Ala17Ser) variant of WAS (P42768)
A17S (p.Ala17Ser) in WAS (P42768) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A17S (p.Ala17Ser) variant details
- p.Ala17Ser
- rs1569493673
- ClinGen CA412865373
- ClinVar RCV000686435
- Ensembl rs1569493673
- Uncertain significance
- Wiskott-Aldrich syndrome; X-linked severe congenital neutropenia; Thrombocytopen
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.32
- CADD 3.66
- PolyPhen-2 0.01
- SIFT 0.74
- ClinVar: Uncertain significance (Wiskott-Aldrich syndrome; X-linked severe congenital neutropenia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available
- Cited in: WAS-Related Disorders. (PMID 20301357)