L21P (p.Leu21Pro) variant of CDH1 (Cadherin-1)
L21P (p.Leu21Pro) 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; not provided; Hereditary diffuse gastri. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes published literature and structural context.
L21P (p.Leu21Pro) variant details
- p.Leu21Pro
- rs1064794920
- ClinGen CA16620229
- ClinVar RCV000486805
- ClinVar RCV001525071
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Hereditary diffuse gastri
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- AlphaMissense 0.09
- MetaLR 0.10
- MetaSVM -1.05
- PolyPhen-2 0.65
- SIFT 0.35
- MutPred 0.64
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Hereditar)
- 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)