G12V (p.Gly12Val) variant of SUZ12 (Polycomb protein SUZ12)
G12V (p.Gly12Val) in SUZ12 (Polycomb protein SUZ12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
G12V (p.Gly12Val) variant details
- p.Gly12Val
- gnomAD 17-31937281-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.41
- MetaLR 0.44
- MetaSVM -0.28
- CADD 23.90
- PolyPhen-2 0.21
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available