W557R (p.Trp557Arg) variant of KIT (P10721)
W557R (p.Trp557Arg) in KIT (P10721) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary cancer-predisposing syndrome; Gastrointestinal stromal tumor. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
W557R (p.Trp557Arg) variant details
- p.Trp557Arg
- rs121913235
- ClinGen CA16602392
- NCI-TCGA Cosmic COSV5538
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; Gastrointestinal stromal tumor
- Missense
- Variant Prioritization Score for Impact Estimate 0.907
- AlphaMissense 0.96
- MetaLR 0.93
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.84
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; Gastrointestinal stroma)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: The UK NEQAS for Molecular Genetics scheme for gastrointestinal stromal tumour: findings and recommendations following… (PMID 22685257)