S17R (p.Ser17Arg) variant of SUZ12 (Polycomb protein SUZ12)
S17R (p.Ser17Arg) in SUZ12 (Polycomb protein SUZ12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
S17R (p.Ser17Arg) variant details
- p.Ser17Arg
- gnomAD 17-31937297-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.31
- MetaLR 0.20
- MetaSVM -0.56
- CADD 23.60
- PolyPhen-2 0.10
- SIFT 0.47
- Population evidence available
- Structural context available
- Literature evidence available