E64K (p.Glu64Lys) variant of MCM2 (P49736)
E64K (p.Glu64Lys) in MCM2 (P49736) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
E64K (p.Glu64Lys) variant details
- p.Glu64Lys
- gnomAD 3-127599501-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.15
- MetaLR 0.10
- MetaSVM -1.01
- CADD 23.90
- PolyPhen-2 0.13
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available