G21E (p.Gly21Glu) variant of SUZ12 (Polycomb protein SUZ12)
G21E (p.Gly21Glu) in SUZ12 (Polycomb protein SUZ12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
G21E (p.Gly21Glu) variant details
- p.Gly21Glu
- TOPMed rs1478319219
- gnomAD rs1478319219
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.42
- MetaLR 0.34
- MetaSVM -0.16
- CADD 23.20
- PolyPhen-2 0.20
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available