L21F (p.Leu21Phe) variant of CDH1 (Cadherin-1)
L21F (p.Leu21Phe) 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 population frequency data, published literature, and structural context.
L21F (p.Leu21Phe) variant details
- p.Leu21Phe
- rs863224729
- ClinGen CA338485
- ClinVar RCV000199237
- ClinVar RCV001525987
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Hereditary diffuse gastri
- 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 (Hereditary cancer-predisposing syndrome; not provided; Hereditar)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National… (PMID 17508274)