D816V (p.Asp816Val) variant of KIT (P10721)
D816V (p.Asp816Val) 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 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
D816V (p.Asp816Val) variant details
- p.Asp816Val
- rs121913507
- Civic 65
- ClinGen CA123513
- ClinVar RCV000431704
- Uncertain significance
- Gastrointestinal stromal tumor
- Missense
- Variant Prioritization Score for Impact Estimate 0.79
- REVEL 0.89
- CADD 28.10
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor)
- EBI: Pathogenic (in MASTSYS, MASTC and mast cell leukemia)
- UniProt: Pathogenic (in MASTSYS, MASTC and mast cell leukemia)
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available
- Cited in: Mutation analysis of C-KIT in patients with myelodysplastic syndromes without mastocytosis and cases of systemic… (PMID 11380399)
- Cited in: The Kit-activating mutation D816V enhances stem cell factor--dependent chemotaxis. (PMID 11493470)