L18F (p.Leu18Phe) variant of KIT (P10721)
L18F (p.Leu18Phe) in KIT (P10721) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; not provided; Gastrointestinal stromal. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
L18F (p.Leu18Phe) variant details
- p.Leu18Phe
- rs370787811
- ClinGen CA2923118
- ClinVar RCV000470178
- ClinVar RCV001023887
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided; Gastrointestinal stromal
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.12
- MetaLR 0.27
- MetaSVM -0.91
- CADD 17.10
- PolyPhen-2 0.00
- SIFT 0.42
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not provided; Gastroint)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- 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)