K45R (p.Lys45Arg) variant of DNMT1 (P26358)
K45R (p.Lys45Arg) in DNMT1 (P26358) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
K45R (p.Lys45Arg) variant details
- p.Lys45Arg
- ExAC rs757938210
- gnomAD rs757938210
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.25
- CADD 28.00
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available