E33K (p.Glu33Lys) variant of KIT (P10721)
E33K (p.Glu33Lys) 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 0.39 / 1. The record also includes published literature and structural context.
E33K (p.Glu33Lys) variant details
- p.Glu33Lys
- rs1553887257
- ClinGen CA356896836
- ClinVar RCV000633760
- Ensembl rs1553887257
- Uncertain significance
- Gastrointestinal stromal tumor
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- AlphaMissense 0.08
- MetaLR 0.30
- MetaSVM -0.77
- PolyPhen-2 0.03
- SIFT 0.38
- MutPred 0.28
- 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)