G44E (p.Gly44Glu) variant of SUZ12 (Polycomb protein SUZ12)
G44E (p.Gly44Glu) in SUZ12 (Polycomb protein SUZ12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
G44E (p.Gly44Glu) variant details
- p.Gly44Glu
- TOPMed rs1359305761
- gnomAD rs1359305761
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- REVEL 0.50
- MetaLR 0.86
- MetaSVM 0.97
- CADD 22.80
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available