A32V (p.Ala32Val) variant of SUZ12 (Polycomb protein SUZ12)
A32V (p.Ala32Val) in SUZ12 (Polycomb protein SUZ12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
A32V (p.Ala32Val) variant details
- p.Ala32Val
- gnomAD 17-31937341-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.08
- MetaLR 0.26
- MetaSVM -0.89
- CADD 19.20
- PolyPhen-2 0.00
- SIFT 0.52
- Population evidence available
- Structural context available
- Literature evidence available