G2R (p.Gly2Arg) variant of CDH1 (Cadherin-1)
G2R (p.Gly2Arg) in CDH1 (Cadherin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary diffuse gastric adenocarcinoma. 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.
G2R (p.Gly2Arg) variant details
- p.Gly2Arg
- rs786201212
- ClinGen CA396451201
- ClinVar RCV003625442
- TOPMed rs786201212
- Uncertain significance
- Hereditary diffuse gastric adenocarcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- AlphaMissense 0.23
- MetaLR 0.18
- MetaSVM -0.88
- PolyPhen-2 0.96
- SIFT 0.01
- MutPred 0.42
- ClinVar: Uncertain significance (Hereditary diffuse gastric adenocarcinoma)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)
- Cited in: American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. (PMID 20065170)