S19C (p.Ser19Cys) variant of CDH1 (Cadherin-1)
S19C (p.Ser19Cys) 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; Endometrial carcinoma; Ovarian cancer. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes published literature and structural context.
S19C (p.Ser19Cys) variant details
- p.Ser19Cys
- rs1221633501
- ClinGen CA396451616
- ClinVar RCV000574640
- ClinVar RCV001865714
- Uncertain significance
- Hereditary diffuse gastric adenocarcinoma; Endometrial carcinoma; Ovarian cancer
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- AlphaMissense 0.09
- MetaLR 0.12
- MetaSVM -0.99
- PolyPhen-2 0.51
- SIFT 0.18
- MutPred 0.46
- ClinVar: Uncertain significance (Hereditary diffuse gastric adenocarcinoma; Endometrial carcinoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology… (PMID 24493721)
- Cited in: Endometrial cancer: a review and current management strategies: part I. (PMID 24905773)