Q33E (p.Gln33Glu) variant of WAS (P42768)
Q33E (p.Gln33Glu) 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 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
Q33E (p.Gln33Glu) variant details
- p.Gln33Glu
- rs1569493682
- ClinGen CA412865716
- ClinVar RCV000686843
- Ensembl rs1569493682
- Uncertain significance
- Wiskott-Aldrich syndrome; X-linked severe congenital neutropenia; Thrombocytopen
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.45
- CADD 15.70
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Uncertain significance (Wiskott-Aldrich syndrome; X-linked severe congenital neutropenia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.7e-06)
- Structural context available
- Cited in: WAS-Related Disorders. (PMID 20301357)