G7C (p.Gly7Cys) variant of SUZ12 (Polycomb protein SUZ12)
G7C (p.Gly7Cys) 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.
G7C (p.Gly7Cys) variant details
- p.Gly7Cys
- gnomAD 17-31937265-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- REVEL 0.37
- MetaLR 0.74
- MetaSVM 0.55
- CADD 29.80
- PolyPhen-2 0.90
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available