C53C (p.Cys53Cys) variant of SLC30A8 (Q8IWU4)
C53C (p.Cys53Cys) in SLC30A8 (Q8IWU4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
C53C (p.Cys53Cys) variant details
- p.Cys53Cys
- rs1563625824
- gnomAD 8-117147041-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.301
- CADD 8.89
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available