K34S (p.Lys34Ser) variant of SLC6A19 (Q695T7)
K34S (p.Lys34Ser) in SLC6A19 (Q695T7) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
K34S (p.Lys34Ser) variant details
- p.Lys34Ser
- gnomAD 5-1201749-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.306
- CADD 22.50
- Population evidence available
- Structural context available
- Literature evidence available