H6R (p.His6Arg) variant of SUZ12 (Polycomb protein SUZ12)
H6R (p.His6Arg) in SUZ12 (Polycomb protein SUZ12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
H6R (p.His6Arg) variant details
- p.His6Arg
- gnomAD 17-31937263-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.21
- MetaLR 0.29
- MetaSVM -0.58
- CADD 23.80
- PolyPhen-2 0.03
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available