Q16H (p.Gln16His) variant of CDH1 (Cadherin-1)
Q16H (p.Gln16His) in CDH1 (Cadherin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; not provided; Hereditary diffuse gastri. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
Q16H (p.Gln16His) variant details
- p.Gln16His
- rs749591910
- ClinGen CA396451427
- ClinVar RCV001343962
- ClinVar RCV002341708
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided; Hereditary diffuse gastri
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.07
- MetaLR 0.03
- MetaSVM -1.09
- CADD 19.90
- PolyPhen-2 0.51
- SIFT 0.17
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not provided; Hereditar)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)