L5P (p.Leu5Pro) variant of FH (P07954)
L5P (p.Leu5Pro) 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 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
L5P (p.Leu5Pro) variant details
- p.Leu5Pro
- rs200099371
- ClinGen CA40338101
- ClinVar RCV002388217
- ClinVar RCV002544830
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.42
- AlphaMissense 0.13
- MetaLR 0.92
- MetaSVM 1.02
- CADD 22.50
- 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 9.3e-07)
- 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)