L46F (p.Leu46Phe) variant of DNMT1 (P26358)
L46F (p.Leu46Phe) in DNMT1 (P26358) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
L46F (p.Leu46Phe) variant details
- p.Leu46Phe
- gnomAD rs1234060339
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.23
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available