A36D (p.Ala36Asp) variant of SUZ12 (Polycomb protein SUZ12)
A36D (p.Ala36Asp) in SUZ12 (Polycomb protein SUZ12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
A36D (p.Ala36Asp) variant details
- p.Ala36Asp
- gnomAD 17-31937353-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.34
- MetaLR 0.32
- MetaSVM -0.31
- CADD 22.40
- PolyPhen-2 0.20
- SIFT 0.46
- Population evidence available
- Structural context available
- Literature evidence available