A10P (p.Ala10Pro) variant of CDH1 (Cadherin-1)
A10P (p.Ala10Pro) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes published literature and structural context.
A10P (p.Ala10Pro) variant details
- p.Ala10Pro
- rs1053572488
- ClinGen CA396451350
- ClinVar RCV001175961
- TOPMed rs1053572488
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- AlphaMissense 0.12
- MetaLR 0.11
- MetaSVM -1.03
- PolyPhen-2 0.00
- SIFT 0.07
- MutPred 0.49
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)