S28L (p.Ser28Leu) variant of SUZ12 (Polycomb protein SUZ12)
S28L (p.Ser28Leu) in SUZ12 (Polycomb protein SUZ12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
S28L (p.Ser28Leu) variant details
- p.Ser28Leu
- gnomAD 17-31937329-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.20
- MetaLR 0.39
- MetaSVM -0.38
- CADD 24.00
- PolyPhen-2 0.00
- SIFT 0.22
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.3e-05)
- Structural context available
- Literature evidence available