G43D (p.Gly43Asp) variant of MCM2 (P49736)
G43D (p.Gly43Asp) in MCM2 (P49736) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
G43D (p.Gly43Asp) variant details
- p.Gly43Asp
- gnomAD 3-127599439-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.21
- MetaLR 0.06
- MetaSVM -1.07
- CADD 23.20
- PolyPhen-2 0.02
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available