Q29E (p.Gln29Glu) variant of SLC30A8 (Q8IWU4)
Q29E (p.Gln29Glu) in SLC30A8 (Q8IWU4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
Q29E (p.Gln29Glu) variant details
- p.Gln29Glu
- gnomAD 8-117146967-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.09
- CADD 12.60
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available