K30E (p.Lys30Glu) variant of SLC30A8 (Q8IWU4)
K30E (p.Lys30Glu) in SLC30A8 (Q8IWU4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
K30E (p.Lys30Glu) variant details
- p.Lys30Glu
- gnomAD 8-117146970-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.25
- CADD 21.90
- PolyPhen-2 0.09
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available