F59L (p.Phe59Leu) variant of HCN1 (O60741)
F59L (p.Phe59Leu) in HCN1 (O60741) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
F59L (p.Phe59Leu) variant details
- p.Phe59Leu
- rs1298378220
- ClinGen CA359706585
- ClinVar RCV002404045
- gnomAD rs1298378220
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.40
- AlphaMissense 0.99
- MetaLR 0.87
- MetaSVM 0.88
- CADD 14.50
- PolyPhen-2 0.98
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.8e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)