G42D (p.Gly42Asp) variant of SUZ12 (Polycomb protein SUZ12)
G42D (p.Gly42Asp) in SUZ12 (Polycomb protein SUZ12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
G42D (p.Gly42Asp) variant details
- p.Gly42Asp
- gnomAD 17-31937371-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.42
- MetaLR 0.55
- MetaSVM 0.25
- CADD 22.80
- PolyPhen-2 0.29
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available