T7K (p.Thr7Lys) variant of SLC30A8 (Q8IWU4)
T7K (p.Thr7Lys) in SLC30A8 (Q8IWU4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
T7K (p.Thr7Lys) variant details
- p.Thr7Lys
- ExAC rs755057304
- TOPMed rs755057304
- gnomAD rs755057304
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.23
- CADD 18.50
- PolyPhen-2 0.07
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available