E60A (p.Glu60Ala) variant of MCM2 (P49736)
E60A (p.Glu60Ala) in MCM2 (P49736) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
E60A (p.Glu60Ala) variant details
- p.Glu60Ala
- gnomAD 3-127599490-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.04
- MetaLR 0.03
- MetaSVM -1.07
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.43
- Population evidence available
- Structural context available
- Literature evidence available