S5R (p.Ser5Arg) variant of CDH1 (Cadherin-1)
S5R (p.Ser5Arg) in CDH1 (Cadherin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Hereditary diffuse gastric adenocarcino. The record also includes population frequency data and structural context.
S5R (p.Ser5Arg) variant details
- p.Ser5Arg
- rs2543814073
- ClinGen CA2580091842
- ClinVar RCV003141274
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Hereditary diffuse gastric adenocarcino
- Missense
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Hereditary diffuse gast)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available