V17L (p.Val17Leu) variant of CDH1 (Cadherin-1)
V17L (p.Val17Leu) 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 0.33 / 1. The record also includes published literature and structural context.
V17L (p.Val17Leu) variant details
- p.Val17Leu
- rs780470521
- ClinGen CA16614951
- ClinVar RCV000456580
- ExAC rs780470521
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Hereditary diffuse gastric adenocarcino
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- AlphaMissense 0.09
- MetaLR 0.15
- MetaSVM -0.92
- PolyPhen-2 0.74
- SIFT 0.00
- MutPred 0.58
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Hereditary diffuse gast)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)