A4P (p.Ala4Pro) variant of KIT (P10721)
A4P (p.Ala4Pro) 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 0.48 / 1. The record also includes published literature and structural context.
A4P (p.Ala4Pro) variant details
- p.Ala4Pro
- rs1192807264
- ClinGen CA356897846
- ClinVar RCV000633721
- TOPMed rs1192807264
- Uncertain significance
- Gastrointestinal stromal tumor
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- AlphaMissense 0.37
- MetaLR 0.37
- MetaSVM -0.13
- PolyPhen-2 0.97
- SIFT 0.01
- MutPred 0.42
- 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)