G31S (p.Gly31Ser) variant of CDH1 (Cadherin-1)
G31S (p.Gly31Ser) 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; Hereditary cancer-predisposing syndro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
G31S (p.Gly31Ser) variant details
- p.Gly31Ser
- rs2152114387
- ClinGen CA396451864
- ClinVar RCV001368687
- Ensembl rs2152114387
- Uncertain significance
- Hereditary diffuse gastric adenocarcinoma; Hereditary cancer-predisposing syndro
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- AlphaMissense 0.29
- MetaLR 0.39
- MetaSVM -0.20
- PolyPhen-2 0.98
- SIFT 0.01
- MutPred 0.62
- ClinVar: Uncertain significance (Hereditary diffuse gastric adenocarcinoma; Hereditary cancer-pre)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)