F76L (p.Phe76Leu) variant of VHL (P40337)
F76L (p.Phe76Leu) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
F76L (p.Phe76Leu) variant details
- p.Phe76Leu
- rs1575921940
- ClinGen CA351749248
- ClinVar RCV001323711
- ClinVar RCV005286407
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- REVEL 0.89
- MetaLR 0.99
- MetaSVM 0.95
- CADD 26.50
- SIFT 0.02
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Pathogenic (in VHLD)
- UniProt: Pathogenic (in VHLD)
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available
- Cited in: Germline mutations detected in the von Hippel-Lindau disease tumor suppressor gene by Southern blot and direct genomic… (PMID 9452032)
- Cited in: Clinical utility gene card for: familial erythrocytosis. (PMID 22274579)