F136L (p.Phe136Leu) variant of VHL (P40337)
F136L (p.Phe136Leu) 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 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
F136L (p.Phe136Leu) variant details
- p.Phe136Leu
- rs878854125
- ClinGen CA10582115
- ClinVar RCV000231504
- ClinVar RCV000563379
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- REVEL 0.86
- MetaLR 0.99
- MetaSVM 1.04
- CADD 24.80
- PolyPhen-2 0.71
- SIFT 0.06
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance (in VHLD)
- UniProt: Uncertain significance (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)