G6D (p.Gly6Asp) variant of KIT (P10721)
G6D (p.Gly6Asp) 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 0.38 / 1. The record also includes published literature and structural context.
G6D (p.Gly6Asp) variant details
- p.Gly6Asp
- rs1716939970
- ClinGen CA356897871
- ClinVar RCV001067043
- NCI-TCGA TCGA novel
- Uncertain significance
- Gastrointestinal stromal tumor
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- AlphaMissense 0.16
- MetaLR 0.19
- MetaSVM -0.95
- PolyPhen-2 0.59
- SIFT 0.24
- MutPred 0.36
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)