S17C (p.Ser17Cys) variant of SUZ12 (Polycomb protein SUZ12)
S17C (p.Ser17Cys) 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.
S17C (p.Ser17Cys) variant details
- p.Ser17Cys
- TOPMed rs1181343866
- gnomAD rs1181343866
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.33
- MetaLR 0.18
- MetaSVM -0.66
- CADD 24.20
- PolyPhen-2 0.16
- SIFT 0.09
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available