E44K (p.Glu44Lys) variant of DNMT1 (P26358)
E44K (p.Glu44Lys) in DNMT1 (P26358) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
E44K (p.Glu44Lys) variant details
- p.Glu44Lys
- gnomAD rs1242559756
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.14
- CADD 24.30
- PolyPhen-2 0.99
- SIFT 0.16
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available