R732Q (p.Arg732Gln) variant of CDH1 (Cadherin-1)
R732Q (p.Arg732Gln) in CDH1 (Cadherin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of CDH1-related diffuse gastric and lobular breast cancer syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
R732Q (p.Arg732Gln) variant details
- p.Arg732Gln
- rs1060501244
- ClinGen CA16615410
- NCI-TCGA Cosmic COSV5572
- cosmic curated COSV55728
- Pathogenic
- CDH1-related diffuse gastric and lobular breast cancer syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.734
- MutPred 0.73
- ClinVar: Pathogenic (CDH1-related diffuse gastric and lobular breast cancer syndrome)
- 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)