A18S (p.Ala18Ser) variant of SUZ12 (Polycomb protein SUZ12)
A18S (p.Ala18Ser) in SUZ12 (Polycomb protein SUZ12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A18S (p.Ala18Ser) variant details
- p.Ala18Ser
- gnomAD 17-31937298-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.23
- MetaLR 0.19
- MetaSVM -0.90
- CADD 21.70
- PolyPhen-2 0.07
- SIFT 0.83
- Population evidence available
- Structural context available
- Literature evidence available