K58Q (p.Lys58Gln) variant of SLC30A8 (Q8IWU4)
K58Q (p.Lys58Gln) in SLC30A8 (Q8IWU4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
K58Q (p.Lys58Gln) variant details
- p.Lys58Gln
- rs1246625721
- ClinGen CA371911875
- ClinVar RCV004142327
- TOPMed rs1246625721
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.06
- MetaLR 0.11
- MetaSVM -1.06
- CADD 5.97
- PolyPhen-2 0.01
- SIFT 0.60
- ClinVar: Likely benign (not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00039)
- Structural context available