G278R (p.Gly278Arg) variant of CDH1 (Cadherin-1)
G278R (p.Gly278Arg) in CDH1 (Cadherin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary cancer-predisposing syndrome; Hereditary diffuse gastric adenocarcino. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
G278R (p.Gly278Arg) variant details
- p.Gly278Arg
- rs943875725
- gnomAD rs943875725
- ClinGen CA283298493
- NCI-TCGA Cosmic COSV5572
- Pathogenic
- Hereditary cancer-predisposing syndrome; Hereditary diffuse gastric adenocarcino
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- AlphaMissense 0.87
- MetaLR 0.62
- MetaSVM 0.50
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.90
- ClinVar: Pathogenic (Hereditary cancer-predisposing syndrome; Hereditary diffuse gast)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National… (PMID 17508274)