F10S (p.Phe10Ser) variant of KIT (P10721)
F10S (p.Phe10Ser) 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 0.38 / 1. The record also includes published literature and structural context.
F10S (p.Phe10Ser) variant details
- p.Phe10Ser
- rs1716941044
- ClinGen CA356897921
- ClinVar RCV001239060
- ClinVar RCV005582630
- Uncertain significance
- Gastrointestinal stromal tumor; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- AlphaMissense 0.35
- MetaLR 0.25
- MetaSVM -0.82
- PolyPhen-2 0.00
- SIFT 0.00
- MutPred 0.60
- 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)