G7D (p.Gly7Asp) variant of SUZ12 (Polycomb protein SUZ12)
G7D (p.Gly7Asp) in SUZ12 (Polycomb protein SUZ12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
G7D (p.Gly7Asp) variant details
- p.Gly7Asp
- ExAC rs770347636
- gnomAD rs770347636
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.41
- MetaLR 0.64
- MetaSVM 0.32
- CADD 26.30
- PolyPhen-2 0.62
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9.8e-07)
- Structural context available