F32I (p.Phe32Ile) variant of CDH1 (Cadherin-1)
F32I (p.Phe32Ile) 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; Familial cancer of breast. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature and structural context.
F32I (p.Phe32Ile) variant details
- p.Phe32Ile
- rs1382043754
- ClinVar RCV004575509
- ClinVar RCV005101923
- TOPMed rs1382043754
- Uncertain significance
- Hereditary diffuse gastric adenocarcinoma; Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- AlphaMissense 0.88
- MetaLR 0.59
- MetaSVM 0.27
- PolyPhen-2 0.87
- SIFT 0.00
- MutPred 0.93
- ClinVar: Uncertain significance (Hereditary diffuse gastric adenocarcinoma; Familial cancer of br)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)