A634V (p.Ala634Val) variant of CDH1 (Cadherin-1)
A634V (p.Ala634Val) in CDH1 (Cadherin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary cancer-predisposing syndrome; not provided; Hereditary diffuse gastri. The record also includes variant effect predictions, population frequency data, published literature, and structural context.
A634V (p.Ala634Val) variant details
- p.Ala634Val
- rs121964878
- ClinGen CA281003
- NCI-TCGA Cosmic COSV5573
- cosmic curated COSV55730
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; not provided; Hereditary diffuse gastri
- Missense
- MutPred 0.37
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; not provided; Hereditar)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Identification of CDH1 germline missense mutations associated with functional inactivation of the E-cadherin protein in… (PMID 12588804)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)