Q26R (p.Gln26Arg) variant of KIT (P10721)
Q26R (p.Gln26Arg) in KIT (P10721) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Gastrointestinal stromal tumor. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes published literature and structural context.
Q26R (p.Gln26Arg) variant details
- p.Gln26Arg
- rs1560393066
- ClinGen CA356896799
- ClinVar RCV000703052
- ClinVar RCV004026615
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Gastrointestinal stromal tumor
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- AlphaMissense 0.10
- MetaLR 0.42
- MetaSVM -0.17
- PolyPhen-2 0.99
- SIFT 0.58
- MutPred 0.23
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Gastrointestinal stroma)
- 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)