Y23* (p.Tyr23Ter) variant of VHL (P40337)
Y23* (p.Tyr23Ter) 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.
Y23* (p.Tyr23Ter) variant details
- p.Tyr23Ter
- rs1553619313
- TOPMed rs1553619313
- ClinGen CA351747398
- cosmic curated COSV56552
- Likely benign
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.391
- CADD 33.00
- EBI: Likely benign
- UniProt: Likely benign
- 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)