T48P (p.Thr48Pro) variant of WAS (P42768)
T48P (p.Thr48Pro) in WAS (P42768) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic 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 0.87 / 1. The record also includes published literature and structural context.
T48P (p.Thr48Pro) variant details
- p.Thr48Pro
- rs2062412197
- ClinGen CA412866088
- ClinVar RCV001204405
- Ensembl rs2062412197
- Likely pathogenic
- Thrombocytopenia 1; X-linked severe congenital neutropenia; Wiskott-Aldrich synd
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- AlphaMissense 0.85
- MetaLR 0.97
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.61
- ClinVar: Likely pathogenic (Thrombocytopenia 1; X-linked severe congenital neutropenia; Wisk)
- EBI: Likely pathogenic (in THC1)
- UniProt: Likely pathogenic (in THC1)
- Structural context available
- Cited in: WAS-Related Disorders. (PMID 20301357)