C49C (p.Cys49Cys) variant of SLC6A19 (Q695T7)
C49C (p.Cys49Cys) in SLC6A19 (Q695T7) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
C49C (p.Cys49Cys) variant details
- p.Cys49Cys
- rs778666369
- gnomAD 5-1201797-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.147
- CADD 9.33
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Literature evidence available