H6Y (p.His6Tyr) variant of SUZ12 (Polycomb protein SUZ12)
H6Y (p.His6Tyr) in SUZ12 (Polycomb protein SUZ12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
H6Y (p.His6Tyr) variant details
- p.His6Tyr
- Ensembl rs1905986323
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.27
- AlphaMissense 0.23
- MetaLR 0.28
- MetaSVM -0.31
- CADD 23.80
- PolyPhen-2 0.82
- Most common in the Non-Finnish European population (allele frequency 9.8e-07)
- Structural context available