G38C (p.Gly38Cys) variant of SUZ12 (Polycomb protein SUZ12)
G38C (p.Gly38Cys) in SUZ12 (Polycomb protein SUZ12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
G38C (p.Gly38Cys) variant details
- p.Gly38Cys
- gnomAD 17-31937358-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- REVEL 0.47
- MetaLR 0.87
- MetaSVM 0.68
- CADD 23.80
- PolyPhen-2 0.36
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available