G12C (p.Gly12Cys) variant of SUZ12 (Polycomb protein SUZ12)
G12C (p.Gly12Cys) in SUZ12 (Polycomb protein SUZ12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
G12C (p.Gly12Cys) variant details
- p.Gly12Cys
- gnomAD 17-31937280-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.38
- MetaLR 0.54
- MetaSVM 0.26
- CADD 26.30
- PolyPhen-2 0.42
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available