L5F (p.Leu5Phe) variant of FH (P07954)
L5F (p.Leu5Phe) in FH (P07954) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
L5F (p.Leu5Phe) variant details
- p.Leu5Phe
- rs1553342165
- ClinGen CA345443088
- ClinVar RCV000566793
- ClinVar RCV004777751
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.32
- AlphaMissense 0.08
- MetaLR 0.87
- MetaSVM 0.79
- CADD 16.70
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)