L270P (p.Leu270Pro) variant of WAS (P42768)
L270P (p.Leu270Pro) in WAS (P42768) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic 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 0.92 / 1. The record also includes published literature and structural context.
L270P (p.Leu270Pro) variant details
- p.Leu270Pro
- rs132630274
- ClinGen CA280988
- ClinVar RCV000011874
- ClinVar RCV001291553
- Pathogenic/Likely pathogenic
- Thrombocytopenia 1; Wiskott-Aldrich syndrome; X-linked severe congenital neutrop
- Missense
- Variant Prioritization Score for Impact Estimate 0.918
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.15
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.76
- ClinVar: Pathogenic/Likely pathogenic (Thrombocytopenia 1; Wiskott-Aldrich syndrome; X-linked severe co)
- EBI: Pathogenic (in XLN)
- UniProt: Pathogenic (in XLN)
- Structural context available
- Cited in: Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia. (PMID 11242115)
- Cited in: WAS-Related Disorders. (PMID 20301357)