G43V (p.Gly43Val) variant of SUZ12 (Polycomb protein SUZ12)
G43V (p.Gly43Val) 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.
G43V (p.Gly43Val) variant details
- p.Gly43Val
- gnomAD 17-31937374-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.41
- MetaLR 0.44
- MetaSVM -0.04
- CADD 24.00
- PolyPhen-2 0.42
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available