G2V (p.Gly2Val) variant of CDH1 (Cadherin-1)
G2V (p.Gly2Val) in CDH1 (Cadherin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.35 / 1. The record also includes published literature and structural context.
G2V (p.Gly2Val) variant details
- p.Gly2Val
- rs878854692
- ClinGen CA10583400
- ClinVar RCV000231609
- ClinVar RCV002354656
- Uncertain significance
- CDH1-related diffuse gastric and lobular breast cancer syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- AlphaMissense 0.12
- MetaLR 0.13
- MetaSVM -0.85
- PolyPhen-2 0.79
- SIFT 0.01
- MutPred 0.40
- ClinVar: Uncertain significance (CDH1-related diffuse gastric and lobular breast cancer syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)