L11F (p.Leu11Phe) variant of KIT (P10721)
L11F (p.Leu11Phe) 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; not pro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
L11F (p.Leu11Phe) variant details
- p.Leu11Phe
- rs934366239
- ClinGen CA96859694
- ClinVar RCV001221034
- ClinVar RCV002322071
- Uncertain significance
- Gastrointestinal stromal tumor; Hereditary cancer-predisposing syndrome; not pro
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.32
- MetaLR 0.35
- MetaSVM -0.39
- CADD 24.10
- PolyPhen-2 0.45
- SIFT 0.07
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor; Hereditary cancer-predisposing s)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.8e-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)