Q16K (p.Gln16Lys) variant of CDH1 (Cadherin-1)
Q16K (p.Gln16Lys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
Q16K (p.Gln16Lys) variant details
- p.Gln16Lys
- rs770244203
- ClinGen CA396451417
- ClinVar RCV002258640
- ExAC rs770244203
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.13
- AlphaMissense 0.09
- MetaLR 0.30
- MetaSVM -0.57
- CADD 23.30
- PolyPhen-2 0.96
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- 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)