S17N (p.Ser17Asn) variant of SUZ12 (Polycomb protein SUZ12)
S17N (p.Ser17Asn) in SUZ12 (Polycomb protein SUZ12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
S17N (p.Ser17Asn) variant details
- p.Ser17Asn
- gnomAD 17-31937296-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.30
- MetaLR 0.27
- MetaSVM -0.58
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.43
- Population evidence available
- Structural context available
- Literature evidence available