Q26E (p.Gln26Glu) variant of KIT (P10721)
Q26E (p.Gln26Glu) in KIT (P10721) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Gastrointestinal stromal tumor. 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.
Q26E (p.Gln26Glu) variant details
- p.Gln26Glu
- rs759129060
- ClinGen CA2923151
- ClinVar RCV001036232
- ClinVar RCV002298851
- Uncertain significance
- not provided; Gastrointestinal stromal tumor
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.18
- MetaLR 0.39
- MetaSVM -0.30
- CADD 22.00
- PolyPhen-2 0.93
- SIFT 0.11
- ClinVar: Uncertain significance (not provided; Gastrointestinal stromal tumor)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-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)