E70K (p.Glu70Lys) variant of MCM2 (P49736)
E70K (p.Glu70Lys) in MCM2 (P49736) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
E70K (p.Glu70Lys) variant details
- p.Glu70Lys
- gnomAD 3-127599519-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.42
- MetaLR 0.26
- MetaSVM -0.50
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available