A4T (p.Ala4Thr) variant of KIT (P10721)
A4T (p.Ala4Thr) in KIT (P10721) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Gastrointestinal stromal tumor. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
A4T (p.Ala4Thr) variant details
- p.Ala4Thr
- rs1192807264
- ClinGen CA356897845
- ClinVar RCV003039532
- ClinVar RCV005648251
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Gastrointestinal stromal tumor
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.40
- AlphaMissense 0.37
- MetaLR 0.37
- MetaSVM -0.13
- CADD 24.50
- PolyPhen-2 0.97
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Gastrointestinal stroma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- 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)