D68G (p.Asp68Gly) variant of MCM2 (P49736)
D68G (p.Asp68Gly) in MCM2 (P49736) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
D68G (p.Asp68Gly) variant details
- p.Asp68Gly
- gnomAD 3-127599514-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.21
- MetaLR 0.14
- MetaSVM -0.86
- CADD 29.50
- PolyPhen-2 0.43
- SIFT 0.09
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available