F76C (p.Phe76Cys) variant of VHL (P40337)
F76C (p.Phe76Cys) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Chuvash polycythemia; Von Hippel-Lindau syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
F76C (p.Phe76Cys) variant details
- p.Phe76Cys
- rs730882033
- ClinGen CA351749240
- ClinVar RCV000590057
- ClinVar RCV001209996
- Uncertain significance
- Chuvash polycythemia; Von Hippel-Lindau syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- REVEL 0.92
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.91
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Chuvash polycythemia; Von Hippel-Lindau syndrome; not provided)
- EBI: Likely pathogenic (in VHLD)
- UniProt: Likely pathogenic (in VHLD)
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- 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)