L15P (p.Leu15Pro) variant of KIT (P10721)
L15P (p.Leu15Pro) 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 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
L15P (p.Leu15Pro) variant details
- p.Leu15Pro
- rs1230808481
- ClinGen CA356897974
- ClinVar RCV001907335
- ClinVar RCV004039758
- Uncertain significance
- Gastrointestinal stromal tumor; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- REVEL 0.58
- MetaLR 0.23
- MetaSVM -0.64
- CADD 23.40
- PolyPhen-2 0.20
- SIFT 0.00
- 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 4.5e-06)
- 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)