A64R (p.Ala64Arg) variant of SLC30A8 (Q8IWU4)
A64R (p.Ala64Arg) in SLC30A8 (Q8IWU4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
A64R (p.Ala64Arg) variant details
- p.Ala64Arg
- gnomAD 8-117147067-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.567
- CADD 14.30
- Population evidence available
- Structural context available
- Literature evidence available