Q26H (p.Gln26His) variant of KIT (P10721)
Q26H (p.Gln26His) in KIT (P10721) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Piebaldism; Mastocytosis; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
Q26H (p.Gln26His) variant details
- p.Gln26His
- rs764782713
- ClinGen CA2923152
- ClinVar RCV001063511
- ClinVar RCV001147077
- Conflicting interpretations
- Piebaldism; Mastocytosis; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.25
- MetaLR 0.39
- MetaSVM -0.48
- CADD 20.80
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Piebaldism; Mastocytosis; Hereditary cancer-predisposing syndrom)
- EBI: Likely benign
- UniProt: Likely benign
- 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)