L11P (p.Leu11Pro) variant of CDH1 (Cadherin-1)
L11P (p.Leu11Pro) 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 0.38 / 1. The record also includes published literature and structural context.
L11P (p.Leu11Pro) variant details
- p.Leu11Pro
- rs1393903966
- ClinGen CA396451368
- ClinVar RCV001322612
- Ensembl rs1393903966
- Uncertain significance
- Hereditary diffuse gastric adenocarcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- AlphaMissense 0.27
- MetaLR 0.21
- MetaSVM -0.84
- PolyPhen-2 0.97
- SIFT 0.03
- MutPred 0.74
- 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)