G31D (p.Gly31Asp) variant of CDH1 (Cadherin-1)
G31D (p.Gly31Asp) in CDH1 (Cadherin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial cancer of breast; Hereditary cancer-predisposing syndrome; Hereditary d. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
G31D (p.Gly31Asp) variant details
- p.Gly31Asp
- rs1131690823
- ClinGen CA396451873
- ClinVar RCV001019135
- ClinVar RCV001223352
- Uncertain significance
- Familial cancer of breast; Hereditary cancer-predisposing syndrome; Hereditary d
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- AlphaMissense 0.71
- MetaLR 0.42
- MetaSVM -0.12
- PolyPhen-2 0.37
- SIFT 0.00
- MutPred 0.65
- ClinVar: Uncertain significance (Familial cancer of breast; Hereditary cancer-predisposing syndro)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National… (PMID 17508274)