L18R (p.Leu18Arg) variant of KIT (P10721)
L18R (p.Leu18Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes published literature and structural context.
L18R (p.Leu18Arg) variant details
- p.Leu18Arg
- rs2109521273
- ClinGen CA356897996
- ClinVar RCV003527386
- Uncertain significance
- Gastrointestinal stromal tumor
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- AlphaMissense 0.21
- MetaLR 0.38
- MetaSVM -0.66
- PolyPhen-2 0.85
- SIFT 0.00
- MutPred 0.80
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)