D33V (p.Asp33Val) variant of CDH1 (Cadherin-1)
D33V (p.Asp33Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes published literature and structural context.
D33V (p.Asp33Val) variant details
- p.Asp33Val
- rs1597838602
- ClinGen CA396451930
- ClinVar RCV000812190
- Ensembl rs1597838602
- Uncertain significance
- Hereditary diffuse gastric adenocarcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- AlphaMissense 0.14
- MetaLR 0.06
- MetaSVM -1.02
- PolyPhen-2 0.03
- SIFT 0.22
- MutPred 0.47
- ClinVar: Uncertain significance (Hereditary diffuse gastric adenocarcinoma)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)
- Cited in: American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. (PMID 20065170)