D9N (p.Asp9Asn) variant of KIT (P10721)
D9N (p.Asp9Asn) in KIT (P10721) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Gastrointestinal stromal tumor; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
D9N (p.Asp9Asn) variant details
- p.Asp9Asn
- rs1476871700
- ClinGen CA356897904
- ClinVar RCV000633743
- ClinVar RCV005582362
- Conflicting interpretations
- Gastrointestinal stromal tumor; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.29
- MetaLR 0.38
- MetaSVM -0.57
- CADD 25.10
- PolyPhen-2 0.77
- SIFT 0.36
- ClinVar: Conflicting classifications of pathogenicity (Gastrointestinal stromal tumor; Hereditary cancer-predisposing s)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- 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)