T45M (p.Thr45Met) variant of WAS (P42768)
T45M (p.Thr45Met) in WAS (P42768) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
T45M (p.Thr45Met) variant details
- p.Thr45Met
- rs132630273
- ClinGen CA255728
- NCI-TCGA Cosmic COSV6499
- ClinVar RCV000011872
- Pathogenic
- Thrombocytopenia 1; Wiskott-Aldrich syndrome; X-linked severe congenital neutrop
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- REVEL 0.83
- AlphaMissense 0.62
- MetaLR 0.98
- MetaSVM 1.08
- CADD 25.40
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Thrombocytopenia 1; Wiskott-Aldrich syndrome; X-linked severe co)
- EBI: Pathogenic (in WAS and THC1)
- UniProt: Pathogenic (in WAS and THC1)
- Population evidence available
- Structural context available
- Cited in: Missense C168T in the Wiskott--Aldrich Syndrome protein gene is a common mutation in X-linked thrombocytopenia. (PMID 11167787)
- Cited in: Identification of mutations in the Wiskott-Aldrich syndrome gene and characterization of a polymorphic dinucleotide… (PMID 7753869)