G12S (p.Gly12Ser) variant of SUZ12 (Polycomb protein SUZ12)
G12S (p.Gly12Ser) in SUZ12 (Polycomb protein SUZ12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
G12S (p.Gly12Ser) variant details
- p.Gly12Ser
- gnomAD 17-31937280-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.28
- MetaLR 0.44
- MetaSVM -0.25
- CADD 23.30
- PolyPhen-2 0.05
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available