V559F (p.Val559Phe) variant of KIT (P10721)
V559F (p.Val559Phe) in KIT (P10721) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Gastrointestinal stromal tumor; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
V559F (p.Val559Phe) variant details
- p.Val559Phe
- rs121913520
- ClinGen CA356907472
- ClinVar RCV001228656
- ClinVar RCV004951367
- Uncertain significance
- Gastrointestinal stromal tumor; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.734
- REVEL 0.77
- AlphaMissense 0.31
- MetaLR 0.74
- MetaSVM 0.31
- CADD 26.40
- PolyPhen-2 0.74
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor; Hereditary cancer-predisposing s)
- EBI: Variant of uncertain significance (in GIST)
- UniProt: Uncertain significance (in GIST)
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available
- Cited in: The UK NEQAS for Molecular Genetics scheme for gastrointestinal stromal tumour: findings and recommendations following… (PMID 22685257)
- Cited in: Tumor markers in colorectal cancer, gastric cancer and gastrointestinal stromal cancers: European group on tumor… (PMID 23852704)