L55P (p.Leu55Pro) variant of WAS (P42768)
L55P (p.Leu55Pro) in WAS (P42768) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Thrombocytopenia 1; X-linked severe congenital neutropenia; Wiskott-Aldrich synd. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
L55P (p.Leu55Pro) variant details
- p.Leu55Pro
- rs2062412293
- ClinGen CA412866218
- ClinVar RCV001218570
- ClinVar RCV001824936
- Uncertain significance
- Thrombocytopenia 1; X-linked severe congenital neutropenia; Wiskott-Aldrich synd
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- AlphaMissense 0.93
- MetaLR 0.95
- MetaSVM 1.07
- PolyPhen-2 0.99
- SIFT 0.18
- EVE 0.55
- ClinVar: Uncertain significance (Thrombocytopenia 1; X-linked severe congenital neutropenia; Wisk)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: WAS-Related Disorders. (PMID 20301357)