E44G (p.Glu44Gly) variant of SLC30A8 (Q8IWU4)
E44G (p.Glu44Gly) in SLC30A8 (Q8IWU4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
E44G (p.Glu44Gly) variant details
- p.Glu44Gly
- TOPMed rs1821930036
- gnomAD rs1821930036
- Missense
- Variant Prioritization Score for Impact Estimate 0.0941
- REVEL 0.07
- CADD 10.50
- PolyPhen-2 0.01
- SIFT 0.05
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available