T60Q (p.Thr60Gln) variant of SLC30A8 (Q8IWU4)
T60Q (p.Thr60Gln) in SLC30A8 (Q8IWU4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
T60Q (p.Thr60Gln) variant details
- p.Thr60Gln
- rs1041883539
- gnomAD 8-117147056-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.423
- CADD 20.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available