P3S (p.Pro3Ser) variant of CDH1 (Cadherin-1)
P3S (p.Pro3Ser) 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 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
P3S (p.Pro3Ser) variant details
- p.Pro3Ser
- rs1064793079
- ClinGen CA16620227
- ClinVar RCV000485012
- ClinVar RCV000817256
- Uncertain significance
- CDH1-related diffuse gastric and lobular breast cancer syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- AlphaMissense 0.06
- MetaLR 0.09
- MetaSVM -0.99
- PolyPhen-2 0.01
- SIFT 0.03
- MutPred 0.37
- ClinVar: Uncertain significance (CDH1-related diffuse gastric and lobular breast cancer syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)