K5E (p.Lys5Glu) variant of SUZ12 (Polycomb protein SUZ12)
K5E (p.Lys5Glu) in SUZ12 (Polycomb protein SUZ12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
K5E (p.Lys5Glu) variant details
- p.Lys5Glu
- gnomAD 17-31937259-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.06
- MetaLR 0.10
- MetaSVM -0.90
- CADD 24.30
- PolyPhen-2 0.04
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available