A30S (p.Ala30Ser) variant of SUZ12 (Polycomb protein SUZ12)
A30S (p.Ala30Ser) 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.
A30S (p.Ala30Ser) variant details
- p.Ala30Ser
- gnomAD 17-31937334-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.17
- MetaLR 0.41
- MetaSVM -0.32
- CADD 21.90
- PolyPhen-2 0.00
- SIFT 0.59
- Population evidence available
- Structural context available
- Literature evidence available