G12D (p.Gly12Asp) variant of SUZ12 (Polycomb protein SUZ12)
G12D (p.Gly12Asp) in SUZ12 (Polycomb protein SUZ12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
G12D (p.Gly12Asp) variant details
- p.Gly12Asp
- gnomAD 17-31937281-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.34
- MetaLR 0.48
- MetaSVM -0.28
- CADD 23.80
- PolyPhen-2 0.00
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available