L21I (p.Leu21Ile) variant of CDH1 (Cadherin-1)
L21I (p.Leu21Ile) in CDH1 (Cadherin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of CDH1-related diffuse gastric and lobular breast cancer syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes published literature and structural context.
L21I (p.Leu21Ile) variant details
- p.Leu21Ile
- rs863224729
- ClinGen CA10577531
- ClinVar RCV000213718
- ClinVar RCV000639276
- Uncertain significance
- CDH1-related diffuse gastric and lobular breast cancer syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- AlphaMissense 0.08
- MetaLR 0.11
- MetaSVM -1.01
- PolyPhen-2 0.01
- SIFT 0.44
- MutPred 0.37
- ClinVar: Uncertain significance (CDH1-related diffuse gastric and lobular breast cancer syndrome)
- 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)