K34S (p.Lys34Ser) variant of SLC30A8 (Q8IWU4)
K34S (p.Lys34Ser) in SLC30A8 (Q8IWU4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
K34S (p.Lys34Ser) variant details
- p.Lys34Ser
- rs587777582
- gnomAD 8-117146981-TAAAG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.322
- CADD 23.90
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Loss-of-function mutations in SLC30A8 protect against type 2 diabetes. (PMID 24584071)