P58T (p.Pro58Thr) variant of WAS (P42768)
P58T (p.Pro58Thr) in WAS (P42768) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic 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 0.75 / 1. The record also includes published literature and structural context.
P58T (p.Pro58Thr) variant details
- p.Pro58Thr
- rs2062412365
- ClinGen CA412866249
- ClinVar RCV001047233
- Ensembl rs2062412365
- Pathogenic
- X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich synd
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- AlphaMissense 0.18
- MetaLR 0.97
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.12
- MutPred 0.72
- ClinVar: Pathogenic (X-linked severe congenital neutropenia; Thrombocytopenia 1; Wisk)
- EBI: Pathogenic (in THC1)
- UniProt: Pathogenic (in THC1)
- Structural context available
- Cited in: WAS-Related Disorders. (PMID 20301357)