Q36K (p.Gln36Lys) variant of SLC30A8 (Q8IWU4)
Q36K (p.Gln36Lys) in SLC30A8 (Q8IWU4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
Q36K (p.Gln36Lys) variant details
- p.Gln36Lys
- gnomAD 8-117146988-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.15
- CADD 12.30
- PolyPhen-2 0.00
- SIFT 0.28
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available