P30R (p.Pro30Arg) variant of CDH1 (Cadherin-1)
P30R (p.Pro30Arg) 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; Hereditary diffuse gastric adenocarcino. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
P30R (p.Pro30Arg) variant details
- p.Pro30Arg
- rs876660408
- ClinGen CA10580069
- cosmic curated COSV55739
- ClinVar RCV000214994
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Hereditary diffuse gastric adenocarcino
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- AlphaMissense 0.19
- MetaLR 0.73
- MetaSVM 0.08
- PolyPhen-2 1.00
- SIFT 0.04
- MutPred 0.81
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Hereditary diffuse gast)
- 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)