D51E (p.Asp51Glu) variant of MCM2 (P49736)
D51E (p.Asp51Glu) in MCM2 (P49736) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
D51E (p.Asp51Glu) variant details
- p.Asp51Glu
- gnomAD 3-127599464-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.15
- MetaLR 0.21
- MetaSVM -0.84
- CADD 25.30
- PolyPhen-2 0.92
- SIFT 0.09
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available