Q28H (p.Gln28His) variant of SLC30A8 (Q8IWU4)
Q28H (p.Gln28His) 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, published literature, and structural context.
Q28H (p.Gln28His) variant details
- p.Gln28His
- gnomAD 8-117146966-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.06
- CADD 6.43
- PolyPhen-2 0.25
- SIFT 0.37
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available