G23D (p.Gly23Asp) variant of KIT (P10721)
G23D (p.Gly23Asp) 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 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
G23D (p.Gly23Asp) variant details
- p.Gly23Asp
- rs2109660271
- ClinGen CA356896781
- ClinVar RCV003081880
- Ensembl rs2109660271
- Uncertain significance
- Gastrointestinal stromal tumor
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.36
- MetaLR 0.37
- MetaSVM -0.41
- CADD 27.30
- PolyPhen-2 0.78
- SIFT 0.00
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor)
- 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)