E58K (p.Glu58Lys) variant of MCM5 (P33992)
E58K (p.Glu58Lys) in MCM5 (P33992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
E58K (p.Glu58Lys) variant details
- p.Glu58Lys
- TOPMed rs1932111212
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.33
- MetaLR 0.26
- MetaSVM -0.78
- CADD 24.10
- PolyPhen-2 0.07
- SIFT 0.12
- Population evidence available
- Structural context available