G42V (p.Gly42Val) variant of SUZ12 (Polycomb protein SUZ12)
G42V (p.Gly42Val) in SUZ12 (Polycomb protein SUZ12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
G42V (p.Gly42Val) variant details
- p.Gly42Val
- gnomAD 17-31937371-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- REVEL 0.37
- MetaLR 0.61
- MetaSVM 0.31
- CADD 25.20
- PolyPhen-2 0.47
- SIFT 0.28
- Population evidence available
- Structural context available
- Literature evidence available