I52L (p.Ile52Leu) variant of FH (P07954)
I52L (p.Ile52Leu) 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 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
I52L (p.Ile52Leu) variant details
- p.Ile52Leu
- rs543844061
- ClinGen CA1478757
- ClinVar RCV000565315
- ClinVar RCV001273185
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.45
- AlphaMissense 0.06
- MetaLR 0.88
- MetaSVM 0.61
- CADD 16.40
- 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 1KG:IBS population (allele frequency 0.0048)
- 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)