R6S (p.Arg6Ser) variant of CDH1 (Cadherin-1)
R6S (p.Arg6Ser) 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 0.31 / 1. The record also includes published literature and structural context.
R6S (p.Arg6Ser) variant details
- p.Arg6Ser
- rs2152113958
- ClinGen CA396451279
- cosmic curated COSV55740
- ClinVar RCV002051162
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Hereditary diffuse gastric adenocarcino
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- AlphaMissense 0.09
- MetaLR 0.09
- MetaSVM -1.06
- PolyPhen-2 0.00
- SIFT 0.44
- MutPred 0.45
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Hereditary diffuse gast)
- 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)
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)