G89D (p.Gly89Asp) variant of WAS (P42768)
G89D (p.Gly89Asp) in WAS (P42768) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
G89D (p.Gly89Asp) variant details
- p.Gly89Asp
- rs139857045
- ClinGen CA10403875
- ClinVar RCV000812382
- ClinVar RCV003480857
- Conflicting interpretations
- Thrombocytopenia 1; Wiskott-Aldrich syndrome; X-linked severe congenital neutrop
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.55
- CADD 17.80
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Thrombocytopenia 1; Wiskott-Aldrich syndrome; X-linked severe co)
- EBI: Pathogenic (in WAS)
- UniProt: Pathogenic (in WAS)
- Most common in the African/African-American population (allele frequency 0.00036)
- Structural context available
- Cited in: Absence of expression of the Wiskott-Aldrich syndrome protein in peripheral blood cells of Wiskott-Aldrich syndrome… (PMID 9683546)
- Cited in: WAS-Related Disorders. (PMID 20301357)