R6H (p.Arg6His) variant of CDH1 (Cadherin-1)
R6H (p.Arg6His) 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 0.32 / 1. The record also includes structural context.
R6H (p.Arg6His) variant details
- p.Arg6His
- rs746464544
- NCI-TCGA Cosmic COSV5573
- cosmic curated COSV55737
- ExAC rs746464544
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Hereditary diffuse gastric adenocarcino
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- AlphaMissense 0.12
- MetaLR 0.08
- MetaSVM -1.05
- PolyPhen-2 0.00
- SIFT 0.57
- MutPred 0.44
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Hereditary diffuse gast)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available