D36E (p.Asp36Glu) variant of MCM2 (P49736)
D36E (p.Asp36Glu) 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, published literature, and structural context.
D36E (p.Asp36Glu) variant details
- p.Asp36Glu
- gnomAD 3-127599419-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- REVEL 0.12
- MetaLR 0.05
- MetaSVM -1.10
- CADD 15.20
- PolyPhen-2 0.01
- SIFT 0.22
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available