S20Y (p.Ser20Tyr) variant of SUZ12 (Polycomb protein SUZ12)
S20Y (p.Ser20Tyr) 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, published literature, and structural context.
S20Y (p.Ser20Tyr) variant details
- p.Ser20Tyr
- gnomAD 17-31937305-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.17
- MetaLR 0.26
- MetaSVM -0.65
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-06)
- Structural context available
- Literature evidence available