L8F (p.Leu8Phe) variant of CDH1 (Cadherin-1)
L8F (p.Leu8Phe) 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
L8F (p.Leu8Phe) variant details
- p.Leu8Phe
- rs1234138761
- ClinGen CA396451317
- ClinVar RCV001916423
- ClinVar RCV002449573
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Hereditary diffuse gastric adenocarcino
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- AlphaMissense 0.06
- MetaLR 0.10
- MetaSVM -1.02
- PolyPhen-2 0.00
- SIFT 0.26
- MutPred 0.43
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Hereditary diffuse gast)
- EBI: Likely benign
- UniProt: Likely benign
- 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)