P27L (p.Pro27Leu) variant of CDH1 (Cadherin-1)
P27L (p.Pro27Leu) 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 cancer-predisposing syndrome; Hereditary diffuse gastric adenocarcino. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes published literature and structural context.
P27L (p.Pro27Leu) variant details
- p.Pro27Leu
- rs1597838536
- ClinGen CA396451791
- ClinVar RCV001027177
- ClinVar RCV001224958
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Hereditary diffuse gastric adenocarcino
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- AlphaMissense 0.09
- MetaLR 0.17
- MetaSVM -0.81
- PolyPhen-2 0.96
- SIFT 0.14
- MutPred 0.56
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Hereditary diffuse gast)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)