D12D (p.Asp12Asp) variant of SLC6A19 (Q695T7)
D12D (p.Asp12Asp) in SLC6A19 (Q695T7) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
D12D (p.Asp12Asp) variant details
- p.Asp12Asp
- rs377331317
- gnomAD 5-1201686-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.236
- CADD 1.61
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Literature evidence available