L163F (p.Leu163Phe) variant of VHL (P40337)
L163F (p.Leu163Phe) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Chuvash polycythemia; Von Hippel-Lindau syndrome; Hereditary cancer-predisposing. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
L163F (p.Leu163Phe) variant details
- p.Leu163Phe
- rs1553620318
- ClinGen CA351756135
- cosmic curated COSV10437
- ClinVar RCV000561095
- Benign
- Chuvash polycythemia; Von Hippel-Lindau syndrome; Hereditary cancer-predisposing
- Missense
- Variant Prioritization Score for Impact Estimate 0.889
- MutPred 0.89
- ClinVar: Benign (Chuvash polycythemia; Von Hippel-Lindau syndrome)
- EBI: Pathogenic (in RCC)
- UniProt: Pathogenic (in RCC)
- 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)