Q23L (p.Gln23Leu) variant of CDH1 (Cadherin-1)
Q23L (p.Gln23Leu) 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 0.32 / 1. The record also includes published literature and structural context.
Q23L (p.Gln23Leu) variant details
- p.Gln23Leu
- rs1962456890
- ClinGen CA396451702
- ClinVar RCV001036971
- Ensembl rs1962456890
- Uncertain significance
- Hereditary diffuse gastric adenocarcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- AlphaMissense 0.13
- MetaLR 0.12
- MetaSVM -1.00
- PolyPhen-2 0.00
- SIFT 0.29
- MutPred 0.46
- ClinVar: Uncertain significance (Hereditary diffuse gastric adenocarcinoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)