K54E (p.Lys54Glu) variant of MCM5 (P33992)
K54E (p.Lys54Glu) in MCM5 (P33992) 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, published literature, and structural context.
K54E (p.Lys54Glu) variant details
- p.Lys54Glu
- gnomAD 22-35400598-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.29
- CADD 24.20
- PolyPhen-2 0.09
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available