H6L (p.His6Leu) variant of SUZ12 (Polycomb protein SUZ12)
H6L (p.His6Leu) in SUZ12 (Polycomb protein SUZ12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
H6L (p.His6Leu) variant details
- p.His6Leu
- gnomAD 17-31937263-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.33
- MetaLR 0.28
- MetaSVM -0.50
- CADD 24.30
- PolyPhen-2 0.06
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available