G43D (p.Gly43Asp) variant of SUZ12 (Polycomb protein SUZ12)
G43D (p.Gly43Asp) in SUZ12 (Polycomb protein SUZ12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
G43D (p.Gly43Asp) variant details
- p.Gly43Asp
- gnomAD 17-31937374-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.33
- MetaLR 0.41
- MetaSVM -0.22
- CADD 24.00
- PolyPhen-2 0.33
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available