G43C (p.Gly43Cys) variant of SUZ12 (Polycomb protein SUZ12)
G43C (p.Gly43Cys) in SUZ12 (Polycomb protein SUZ12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
G43C (p.Gly43Cys) variant details
- p.Gly43Cys
- gnomAD 17-31937373-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- REVEL 0.45
- MetaLR 0.52
- MetaSVM 0.05
- CADD 26.80
- PolyPhen-2 0.79
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available
- Literature evidence available