G239R (p.Gly239Arg) variant of CDH1 (Cadherin-1)
G239R (p.Gly239Arg) 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 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
G239R (p.Gly239Arg) variant details
- p.Gly239Arg
- rs587780537
- Ensembl rs587780537
- ClinGen CA298980
- NCI-TCGA Cosmic COSV5572
- Pathogenic
- CDH1-related diffuse gastric and lobular breast cancer syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- AlphaMissense 0.92
- MetaLR 0.35
- MetaSVM -0.56
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- ClinVar: Pathogenic (CDH1-related diffuse gastric and lobular breast cancer syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology… (PMID 24493721)
- Cited in: Endometrial cancer: a review and current management strategies: part I. (PMID 24905773)