p.Val31 Ala34del variant of SUZ12 (Polycomb protein SUZ12)
p.Val31 Ala34del in SUZ12 (Polycomb protein SUZ12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
p.Val31 Ala34del variant details
- rs1364865405
- gnomAD 17-31937328-TCGGC
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.483
- CADD 20.80
- Most common in the East Asian population (allele frequency 0.00058)
- Structural context available
- Literature evidence available