R19S (p.Arg19Ser) variant of KIT (P10721)
R19S (p.Arg19Ser) in KIT (P10721) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Gastrointestinal stromal tumor; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes published literature and structural context.
R19S (p.Arg19Ser) variant details
- p.Arg19Ser
- rs1490714621
- ClinGen CA356897998
- ClinVar RCV002008895
- ClinVar RCV006396826
- Conflicting interpretations
- Gastrointestinal stromal tumor; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- AlphaMissense 0.20
- MetaLR 0.32
- MetaSVM -0.67
- PolyPhen-2 0.99
- SIFT 0.20
- MutPred 0.59
- ClinVar: Conflicting classifications of pathogenicity (Gastrointestinal stromal tumor; Hereditary cancer-predisposing s)
- EBI: Likely benign
- UniProt: Likely benign
- 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)