A2E (p.Ala2Glu) variant of SUZ12 (Polycomb protein SUZ12)
A2E (p.Ala2Glu) in SUZ12 (Polycomb protein SUZ12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
A2E (p.Ala2Glu) variant details
- p.Ala2Glu
- TOPMed rs1394417218
- gnomAD rs1394417218
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.05
- MetaLR 0.10
- MetaSVM -0.93
- CADD 23.70
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available