S17T (p.Ser17Thr) variant of SUZ12 (Polycomb protein SUZ12)
S17T (p.Ser17Thr) in SUZ12 (Polycomb protein SUZ12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
S17T (p.Ser17Thr) variant details
- p.Ser17Thr
- gnomAD 17-31937296-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.24
- MetaLR 0.28
- MetaSVM -0.62
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.59
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.1e-05)
- Structural context available
- Literature evidence available