E66Q (p.Glu66Gln) variant of MCM2 (P49736)
E66Q (p.Glu66Gln) 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 and structural context.
E66Q (p.Glu66Gln) variant details
- p.Glu66Gln
- ExAC rs751974456
- gnomAD rs751974456
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.14
- MetaLR 0.24
- MetaSVM -0.64
- CADD 26.30
- PolyPhen-2 0.88
- SIFT 0.02
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available