E31K (p.Glu31Lys) variant of WAS (P42768)
E31K (p.Glu31Lys) in WAS (P42768) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; X-linked severe congenital neutropenia; Thrombocytopenia 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
E31K (p.Glu31Lys) variant details
- p.Glu31Lys
- rs1557006239
- ClinGen CA412865672
- ClinVar RCV000633307
- ClinVar RCV000657918
- Pathogenic/Likely pathogenic
- not provided; X-linked severe congenital neutropenia; Thrombocytopenia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.893
- AlphaMissense 0.67
- MetaLR 0.98
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.83
- ClinVar: Pathogenic/Likely pathogenic (not provided; X-linked severe congenital neutropenia; Thrombocyt)
- EBI: Pathogenic (in WAS)
- UniProt: Pathogenic (in WAS)
- Structural context available
- Cited in: Identification of WASP mutations in patients with Wiskott-Aldrich syndrome and isolated thrombocytopenia reveals… (PMID 8528198)
- Cited in: Mutation analysis of five Japanese families with Wiskott-Aldrich syndrome and determination of the family members'… (PMID 9098856)