S20F (p.Ser20Phe) variant of SUZ12 (Polycomb protein SUZ12)
S20F (p.Ser20Phe) in SUZ12 (Polycomb protein SUZ12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
S20F (p.Ser20Phe) variant details
- p.Ser20Phe
- gnomAD 17-31937305-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.18
- MetaLR 0.27
- MetaSVM -0.63
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.69
- Population evidence available
- Structural context available
- Literature evidence available