A4S (p.Ala4Ser) variant of KIT (P10721)
A4S (p.Ala4Ser) 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 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
A4S (p.Ala4Ser) variant details
- p.Ala4Ser
- rs1192807264
- ClinGen CA356897847
- ClinVar RCV002431012
- ClinVar RCV003101889
- Uncertain significance
- Gastrointestinal stromal tumor; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.17
- AlphaMissense 0.37
- MetaLR 0.37
- MetaSVM -0.13
- CADD 24.00
- PolyPhen-2 0.97
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor; Hereditary cancer-predisposing s)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0011)
- 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)