L8F (p.Leu8Phe) variant of FH (P07954)
L8F (p.Leu8Phe) 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 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
L8F (p.Leu8Phe) variant details
- p.Leu8Phe
- rs1660323820
- ClinGen CA345443062
- ClinVar RCV003810687
- ClinVar RCV004366704
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.37
- CADD 12.10
- PolyPhen-2 0.00
- SIFT 0.75
- 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)