E17* (p.Glu17Ter) variant of VHL (P40337)
E17* (p.Glu17Ter) in VHL (P40337) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
E17* (p.Glu17Ter) variant details
- p.Glu17Ter
- rs1028898216
- ClinGen CA70042221
- cosmic curated COSV10455
- ClinVar RCV000657735
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.522
- AlphaMissense 0.13
- MetaLR 0.57
- MetaSVM -0.38
- CADD 34.00
- PolyPhen-2 0.88
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Clinical utility gene card for: familial erythrocytosis. (PMID 22274579)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)