L14F (p.Leu14Phe) variant of FH (P07954)
L14F (p.Leu14Phe) in FH (P07954) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
L14F (p.Leu14Phe) variant details
- p.Leu14Phe
- rs981562354
- ClinGen CA40338036
- ClinVar RCV000635308
- ClinVar RCV002325224
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.35
- AlphaMissense 0.08
- MetaLR 0.88
- MetaSVM 0.71
- CADD 8.40
- PolyPhen-2 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Fumarate Hydratase Deficiency. (PMID 20301679)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)