V18I (p.Val18Ile) variant of WAS (P42768)
V18I (p.Val18Ile) 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 0.58 / 1. The record also includes published literature and structural context.
V18I (p.Val18Ile) variant details
- p.Val18Ile
- rs1569493676
- ClinGen CA412865387
- ClinVar RCV001996908
- Ensembl rs1569493676
- Uncertain significance
- Thrombocytopenia 1; X-linked severe congenital neutropenia; Wiskott-Aldrich synd
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- AlphaMissense 0.08
- MetaLR 0.89
- MetaSVM 0.99
- PolyPhen-2 0.00
- SIFT 0.21
- EVE 0.18
- 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)