E46K (p.Glu46Lys) variant of SLC30A8 (Q8IWU4)
E46K (p.Glu46Lys) in SLC30A8 (Q8IWU4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
E46K (p.Glu46Lys) variant details
- p.Glu46Lys
- TOPMed rs1821930500
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.04
- CADD 16.90
- PolyPhen-2 0.08
- SIFT 0.20
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available