E62Q (p.Glu62Gln) variant of WAS (P42768)
E62Q (p.Glu62Gln) in WAS (P42768) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign 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 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
E62Q (p.Glu62Gln) variant details
- p.Glu62Gln
- rs141605347
- ClinGen CA10403868
- ClinVar RCV000907244
- ESP rs141605347
- Benign
- X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich synd
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.29
- CADD 14.90
- PolyPhen-2 0.12
- SIFT 0.36
- ClinVar: Benign (X-linked severe congenital neutropenia; Thrombocytopenia 1; Wisk)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available
- Cited in: WAS-Related Disorders. (PMID 20301357)