A64E (p.Ala64Glu) variant of SLC30A8 (Q8IWU4)
A64E (p.Ala64Glu) in SLC30A8 (Q8IWU4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
A64E (p.Ala64Glu) variant details
- p.Ala64Glu
- ExAC rs774478941
- TOPMed rs774478941
- gnomAD rs774478941
- Missense
- Variant Prioritization Score for Impact Estimate 0.131
- REVEL 0.06
- MetaLR 0.08
- MetaSVM -1.03
- CADD 0.06
- PolyPhen-2 0.00
- SIFT 0.98
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available