A34V (p.Ala34Val) variant of SUZ12 (Polycomb protein SUZ12)
A34V (p.Ala34Val) in SUZ12 (Polycomb protein SUZ12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A34V (p.Ala34Val) variant details
- p.Ala34Val
- gnomAD 17-31937347-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.10
- MetaLR 0.24
- MetaSVM -0.85
- CADD 22.20
- PolyPhen-2 0.03
- SIFT 0.31
- Population evidence available
- Structural context available
- Literature evidence available