G31A (p.Gly31Ala) variant of CDH1 (Cadherin-1)
G31A (p.Gly31Ala) 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 0.49 / 1. The record also includes published literature and structural context.
G31A (p.Gly31Ala) variant details
- p.Gly31Ala
- rs1131690823
- ClinGen CA396451875
- ClinVar RCV000816009
- Ensembl rs1131690823
- Uncertain significance
- Hereditary diffuse gastric adenocarcinoma
- 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: Uncertain significance (Hereditary diffuse gastric adenocarcinoma)
- EBI: Likely benign
- UniProt: Likely benign
- 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)