N48I (p.Asn48Ile) variant of FH (P07954)
N48I (p.Asn48Ile) 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 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
N48I (p.Asn48Ile) variant details
- p.Asn48Ile
- rs1660246440
- ClinGen CA345442031
- ClinVar RCV002560432
- ClinVar RCV005343155
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.55
- AlphaMissense 0.18
- MetaLR 0.91
- MetaSVM 0.93
- CADD 22.10
- PolyPhen-2 0.02
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00035)
- 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)