A2S (p.Ala2Ser) variant of SUZ12 (Polycomb protein SUZ12)
A2S (p.Ala2Ser) in SUZ12 (Polycomb protein SUZ12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A2S (p.Ala2Ser) variant details
- p.Ala2Ser
- TOPMed rs1905985424
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.05
- MetaLR 0.10
- MetaSVM -0.92
- CADD 23.30
- PolyPhen-2 0.02
- SIFT 0.21
- Population evidence available
- Structural context available