D9G (p.Asp9Gly) variant of KIT (P10721)
D9G (p.Asp9Gly) 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
D9G (p.Asp9Gly) variant details
- p.Asp9Gly
- rs2109520961
- ClinGen CA356897908
- ClinVar RCV001963763
- Ensembl rs2109520961
- Uncertain significance
- Gastrointestinal stromal tumor
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.28
- MetaLR 0.30
- MetaSVM -0.74
- CADD 24.70
- PolyPhen-2 0.49
- SIFT 0.38
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- 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)