P30S (p.Pro30Ser) variant of CDH1 (Cadherin-1)
P30S (p.Pro30Ser) 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 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
P30S (p.Pro30Ser) variant details
- p.Pro30Ser
- rs139866691
- ClinGen CA396451854
- cosmic curated COSV55739
- ClinVar RCV001891102
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Hereditary diffuse gastric adenocarcino
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- AlphaMissense 0.15
- MetaLR 0.55
- MetaSVM -0.32
- PolyPhen-2 0.99
- SIFT 0.36
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Hereditary diffuse gast)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)
- Cited in: American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. (PMID 20065170)