E66D (p.Glu66Asp) variant of MCM2 (P49736)
E66D (p.Glu66Asp) in MCM2 (P49736) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
E66D (p.Glu66Asp) variant details
- p.Glu66Asp
- ExAC rs757457211
- gnomAD rs757457211
- Missense
- Variant Prioritization Score for Impact Estimate 0.146
- REVEL 0.09
- MetaLR 0.04
- MetaSVM -1.07
- CADD 16.70
- PolyPhen-2 0.04
- SIFT 0.27
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available