G31V (p.Gly31Val) variant of CDH1 (Cadherin-1)
G31V (p.Gly31Val) in CDH1 (Cadherin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign 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 0.49 / 1. The record also includes published literature and structural context.
G31V (p.Gly31Val) variant details
- p.Gly31Val
- rs1131690823
- ClinGen CA396451877
- ClinVar RCV000492686
- ClinVar RCV000639264
- Likely benign
- CDH1-related diffuse gastric and lobular breast cancer syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- AlphaMissense 0.71
- MetaLR 0.42
- MetaSVM -0.12
- PolyPhen-2 0.37
- SIFT 0.00
- MutPred 0.65
- ClinVar: Likely benign (CDH1-related diffuse gastric and lobular breast cancer syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- 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)