T25I (p.Thr25Ile) variant of WAS (P42768)
T25I (p.Thr25Ile) in WAS (P42768) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
T25I (p.Thr25Ile) variant details
- p.Thr25Ile
- rs374574436
- ClinGen CA10403836
- ClinVar RCV001902911
- ESP rs374574436
- Uncertain significance
- X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich synd
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- AlphaMissense 0.09
- MetaLR 0.90
- MetaSVM 0.91
- PolyPhen-2 0.01
- SIFT 0.50
- EVE 0.09
- ClinVar: Uncertain significance (X-linked severe congenital neutropenia; Thrombocytopenia 1; Wisk)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: WAS-Related Disorders. (PMID 20301357)