D51G (p.Asp51Gly) variant of MCM2 (P49736)
D51G (p.Asp51Gly) in MCM2 (P49736) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
D51G (p.Asp51Gly) variant details
- p.Asp51Gly
- gnomAD 3-127599463-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.41
- MetaLR 0.34
- MetaSVM -0.32
- CADD 33.00
- PolyPhen-2 0.89
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available