I18F (p.Ile18Phe) variant of DNMT1 (P26358)
I18F (p.Ile18Phe) in DNMT1 (P26358) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
I18F (p.Ile18Phe) variant details
- p.Ile18Phe
- TOPMed rs1759690595
- gnomAD rs1759690595
- Missense
- Variant Prioritization Score for Impact Estimate 0.147
- REVEL 0.09
- CADD 16.50
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available