H29Q (p.His29Gln) variant of CDH1 (Cadherin-1)
H29Q (p.His29Gln) 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 0.29 / 1. The record also includes published literature and structural context.
H29Q (p.His29Gln) variant details
- p.His29Gln
- rs1555509762
- ClinGen CA396451845
- ClinVar RCV001804275
- ClinVar RCV001869502
- Uncertain significance
- Hereditary diffuse gastric adenocarcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- AlphaMissense 0.09
- MetaLR 0.03
- MetaSVM -1.01
- PolyPhen-2 0.00
- SIFT 0.42
- MutPred 0.36
- ClinVar: Uncertain significance (Hereditary diffuse gastric adenocarcinoma)
- EBI: Benign
- UniProt: 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)