G27D (p.Gly27Asp) variant of SUZ12 (Polycomb protein SUZ12)
G27D (p.Gly27Asp) in SUZ12 (Polycomb protein SUZ12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
G27D (p.Gly27Asp) variant details
- p.Gly27Asp
- TOPMed rs1464762189
- gnomAD rs1464762189
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.35
- MetaLR 0.43
- MetaSVM -0.27
- CADD 23.40
- PolyPhen-2 0.50
- SIFT 0.02
- Most common in the Latino/Admixed American population (allele frequency 4.1e-05)
- Structural context available