E6Q (p.Glu6Gln) variant of MCM2 (P49736)
E6Q (p.Glu6Gln) in MCM2 (P49736) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
E6Q (p.Glu6Gln) variant details
- p.Glu6Gln
- gnomAD 3-127599327-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.19
- MetaLR 0.01
- MetaSVM -0.87
- CADD 25.80
- PolyPhen-2 0.57
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available