E10* (p.Glu10Ter) variant of VHL (P40337)
E10* (p.Glu10Ter) in VHL (P40337) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
E10* (p.Glu10Ter) variant details
- p.Glu10Ter
- rs1057519261
- ClinGen CA351747089
- ClinVar RCV000662559
- ClinVar RCV001372824
- Likely benign
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.389
- CADD 33.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)