L5I (p.Leu5Ile) variant of CDC73 (Parafibromin)
L5I (p.Leu5Ile) in CDC73 (Parafibromin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
L5I (p.Leu5Ile) variant details
- p.Leu5Ile
- rs1296841626
- ClinGen CA343972748
- ClinVar RCV002389233
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.797
- REVEL 0.83
- AlphaMissense 0.98
- MetaLR 0.92
- MetaSVM 1.05
- CADD 26.60
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-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)