H29R (p.His29Arg) variant of CDH1 (Cadherin-1)
H29R (p.His29Arg) in CDH1 (Cadherin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Hereditary diffuse gastric adenocarcino. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
H29R (p.His29Arg) variant details
- p.His29Arg
- rs1555509761
- ClinGen CA396451840
- ClinVar RCV000639282
- ClinVar RCV000772600
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Hereditary diffuse gastric adenocarcino
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- AlphaMissense 0.06
- MetaLR 0.02
- MetaSVM -0.99
- PolyPhen-2 0.00
- SIFT 0.88
- MutPred 0.39
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Hereditary diffuse gast)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)