A2T (p.Ala2Thr) variant of SUZ12 (Polycomb protein SUZ12)
A2T (p.Ala2Thr) 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, published literature, and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- gnomAD 17-31937250-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.06
- MetaLR 0.09
- MetaSVM -0.86
- CADD 23.80
- PolyPhen-2 0.04
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available