G12A (p.Gly12Ala) variant of SUZ12 (Polycomb protein SUZ12)
G12A (p.Gly12Ala) 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.
G12A (p.Gly12Ala) variant details
- p.Gly12Ala
- ExAC rs776325989
- gnomAD rs776325989
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.22
- MetaLR 0.40
- MetaSVM -0.52
- CADD 21.90
- PolyPhen-2 0.04
- SIFT 0.15
- Most common in the South Asian population (allele frequency 1.8e-05)
- Structural context available