E66K (p.Glu66Lys) variant of SLC30A8 (Q8IWU4)
E66K (p.Glu66Lys) in SLC30A8 (Q8IWU4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
E66K (p.Glu66Lys) variant details
- p.Glu66Lys
- cosmic curated COSV10143
- 1000Genomes rs200895741
- ExAC rs200895741
- gnomAD rs200895741
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.10
- MetaLR 0.11
- MetaSVM -1.03
- CADD 16.90
- PolyPhen-2 0.01
- SIFT 0.19
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available