T22I (p.Thr22Ile) variant of KIT (P10721)
T22I (p.Thr22Ile) in KIT (P10721) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hereditary cancer-predisposing syndrome; Gastrointestinal stromal. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
T22I (p.Thr22Ile) variant details
- p.Thr22Ile
- rs769943127
- ClinGen CA2923124
- ClinVar RCV000814947
- ClinVar RCV003318644
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome; Gastrointestinal stromal
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.22
- MetaLR 0.24
- MetaSVM -0.70
- CADD 29.50
- PolyPhen-2 0.12
- SIFT 0.12
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome; Gastroint)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)