Q21K (p.Gln21Lys) variant of KIT (P10721)
Q21K (p.Gln21Lys) 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 0.37 / 1. The record also includes published literature and structural context.
Q21K (p.Gln21Lys) variant details
- p.Gln21Lys
- rs2109521392
- ClinGen CA356898017
- ClinVar RCV002366444
- ClinVar RCV003638848
- Uncertain significance
- Gastrointestinal stromal tumor; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- AlphaMissense 0.18
- MetaLR 0.22
- MetaSVM -0.91
- PolyPhen-2 0.17
- SIFT 0.24
- MutPred 0.56
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor; Hereditary cancer-predisposing s)
- 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)