A7T (p.Ala7Thr) variant of KIT (P10721)
A7T (p.Ala7Thr) 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; not pro. 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.
A7T (p.Ala7Thr) variant details
- p.Ala7Thr
- rs1285711357
- ClinGen CA356897875
- ClinVar RCV000693196
- ClinVar RCV002422507
- Uncertain significance
- Gastrointestinal stromal tumor; Hereditary cancer-predisposing syndrome; not pro
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.24
- MetaLR 0.23
- MetaSVM -0.73
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.04
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor; Hereditary cancer-predisposing s)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00044)
- 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)