L11P (p.Leu11Pro) variant of SLC6A19 (Q695T7)
L11P (p.Leu11Pro) in SLC6A19 (Q695T7) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
L11P (p.Leu11Pro) variant details
- p.Leu11Pro
- gnomAD 5-1201678-GGCCTAG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.508
- CADD 25.20
- Population evidence available
- Structural context available
- Literature evidence available